Search results for: congenital deformity

Authors: Zerrin Orbak, Busra Demir

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Osteopetrosis is a rare genetic disease characterized by impaired bone resorption and increased bone sclerosis. Clinical presentation is very different in osteopetrosis. It can be asymptomatic or can be seen with typical symptoms. Here, a case of osteopetrosis was presented when evaluated for nystagmus. She was 10 months old. Parents were second-degree relatives. On physical examination, pigeon chest deformity and horizontal nystagmus were observed. There was a failure of thrive but no fracture. The cardiovascular examination was normal. Cranial, vertebral and long bone roentgenograms revealed characteristic deformities of osteopetrosis and diffuse sclerosis. The diagnosis was confirmed by genetic testing. A Homozygous mutation was detected in the TNFRSF11A gene (c.508A>G p.(Arg170Gly)). RANKL is encoded by the tumor necrosis factor ligand superfamily member 11 (TNFSF11) gene, and the binding to its receptor RANK, encoded by the TNFRSF11A gene, determines the activation of the downstream pathway that drives osteoclast differentiation and activation (51). The complete absence of osteoclasts is the key feature of the osteoclast-poor form of osteopetrosis (46). Patients are characterized by the absence of TRAP-positive osteoclasts in bone biopsies. The osteoclast-poor subtype of osteopetrosis caused by mutations in TNFSF11 gene is ultra-rare in humans. Clinical presentation is usually severe, with onset in early infancy or in fetal life. But here, a case was presented with horizontal nystagmus. A case presented with horizontal nystagmus, which was evaluated by neurology and diagnosed incidentally, was shared.

Keywords: osteopetrosis, nystagmus, bone, osteoclast-poor

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Authors: Mukesh Roy, Basant Singh Sikarwar, Ravi Prakash, Priya Ranjan, Ayush Goyal

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More than 11% of people suffer from weakness in the bone resulting in inability in walking or climbing stairs or from limited upper body and limb immobility. This motivates a fresh bio-mimicking solution to the design of an exo-skeleton to support human movement in the case of partial or total immobility either due to congenital or genetic factors or due to some accident or due to geratological factors. A deeper insight and detailed understanding is required into the workings of the ball and socket joints. Our research is to mimic ball and socket joints to design snugly fitting exoskeletons. Our objective is to design an exoskeleton which is comfortable and the presence of which is not felt if not in use. Towards this goal, a parametric study is conducted to provide detailed design parameters to fabricate an exoskeleton. This work builds up on real data of the design of the exoskeleton, so that the designed exo-skeleton will be able to provide required strength and support to the subject.

Keywords: bio-mimicking, exoskeleton, ball joint, socket joint, artificial limb, patient rehabilitation, joints, human-machine interface, wearable robotics

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Authors: M. Sangeetha, D. Chamundeeswari, C. Saravanababu, C. Rose, V. Gopal

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Rheumatoid arthritis (RA) is a chronic, progressive, systemic inflammatory disorder affecting the synovial joints and typically producing symmetrical arthritis that leads to joint destruction, which is responsible for the deformity and disability. Despite improvements in the treatment of RA over the past decade, there still is a need for new therapeutic agents that are efficacious, less expensive, and free of severe adverse reactions. The present study aimed to investigate role of inflammatory markers in arthritic rats treated with ethanolic bark extract of Albizia procera. The protective effect of ethanolic bark extract of Albizia procera against complete Freund’s adjuvant (CFA) induced arthritis in rats. Arthritis was induced by an intradermal injection of 0.1 ml FCA in the foot pad of left hind limb of rats. ETBE (100 and 200 mg/kg b.wt./p.o) and the reference drug diclofenac (25 mg/kg b.wt./p.o) were administered to arthritic rats. Paw volume was measured for all the animals before inducing arthritis and thereafter once in seven days by using plethysmometer for 42 days. Gene expression of inflammatory markers such as IL-1β and IL-10 were investigated in paw tissues. Up regulation of IL-1β and Down regulation IL-10 were observed in CFA injected rats when compared to normal rats. ETBE attenuated these alterations dose dependently when compared to the vehicle treated rats. These results provide insights into the mechanism of anti-arthritic activity, and unravel potential therapeutic use of Albizia procera in arthritis.

Keywords: CFA-Complete Freund’s adjuvant, ETBE – ethanolic bark extract, IL- interleukins, RA-rheumatoid arthritis

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Authors: Harim Mohsin, Afshan Channa, Beena Saad

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The Kocher Debre Semelaigne Syndrome (KDSS) is known as cretinism muscular hypertrophy. It is an unusual presentation in intellectually deficit children, commonly associated with congenital or iatrogenic hypothyroidism. The creatinine phosphokinase (CPK) is usually elevated and it’s commonly found in males, consanguineous marriage and ages 18 months to 10 years. It might be misdiagnosed without the classical features of hypothyroidism at first presentation. We present a case of 15 year old intellectually deficit female with epilepsy managed on phenytoin. She had rigidity, myxedema, calf muscle hypertrophy and agitation. The patient was managed as Neuroleptic Malignant Syndrome due to raised CPK of 40,680 IU/L and mixed presentation. Nevertheless, no improvement was noticed and thyroid profile was done to exclude alternative resources. Thyroid stimulating hormone (TSH) was 74.5 IU, Free T3 1.22 ng/dl, and Free T4 0.43 ng/dl. Thyroxine was started along with change in antiepileptic leading to recovery. This case report highlights the inconsistent finding of KDSS. The female gender, non-consanguineous marriage, delayed onset with primarily neuromuscular symptoms, and raised CPK is a rare demonstration in KDSS. Additionally, thyroid profile is not routinely done, which can lead to misdiagnosis and mismanagement.

Keywords: cretinism, hypothyroidism, intellectual deficit, KDSS

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Authors: Gianni Izzo

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The relation of Islam to its legal precepts, reflected in the various jurisprudential 'schools of thought' (madhahib), is one expressed in a version of 'positivism' (fiqh) providing the primary theory for deducing Qurʾan rulings and those from the narrations (hadith) of the Prophet Muhammad. Scholars of Islam, including Patricia Crone (2004) and others chronicled by Anver Emon (2005), deny the influence of natural law theories as extra-scriptural indices of revelation’s content. This paper seeks to dispute these claims by reference to historical and canonical examples within Shiʿa legal thought that emphasize the salient roles of ‘aql (reason), fitrah (primordial human nature), and lutf (divine grace). These three holistic features, congenital to every human, and theophanically reflected in nature make up a mode of moral intelligibility antecedent to prophetic revelation. The debate between the 'traditionalist' Akhbaris and 'rationalist' Usulis over the nature of deriving legal edicts in Islam is well-covered academic ground. Instead, an attempt is made to define and detail the built-in assumptions of natural law revealed in the jurisprudential summa of Imami Shiʿism, whether of either dominant school, that undergird its legal prescriptions and methods of deduction.

Keywords: Islam, fiqh, natural law, legal positivism, aql

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Authors: Anna Amato

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Every child needs communication. If spoken language is not or not fully available due to congenital or acquired limitations, those affected need appropriate ways. These can be found in many possibilities of Augmentative and Alternative Communications (AAC). In the communication promotion of severely impaired children, who can use their own body communication forms only to a limited extent for the differentiated understanding, computers with eye control play an essential role. It takes some time to understand the individual forms of communication of the child. Children who depend on the AAC need competent support to learn to communicate in a motivated way in their everyday life. The aim of the present parents' survey (n = 4), which was evaluated descriptively, is to demonstrate the development of communicative abilities as well as the motivation to use complex communication aids with eye control by patients with atypical Rett Syndrome. An increase in communication skills, well-being, self-reliance, and self-esteem, an improvement in social participation, as well as a reduction in anger and screaming events, were noted. The complex visual communication tools were available daily for 3 out of 4 patients with atypical Rett Syndrome. It raises research questions regarding speech understanding and the ability to drive eye control technology in a larger group of atypical Rett Syndrome patients.

Keywords: augmentative and alternative communications, AAC, atypical Rett-syndrome, children, development

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Authors: Tatsuya Iizuka, Takushi Kawamorita, Tomoya Handa, Hitoshi Ishikawa

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We report normative cone contrast sensitivity values and sensitivity and specificity values for a computer-based color vision test, the cone contrast test-HD (CCT-HD). The participants included 50 phakic eyes with normal color vision (NCV) and 20 dichromatic eyes (ten with protanopia and ten with deuteranopia). The CCT-HD was used to measure L, M, and S-CCT-HD scores (color vision deficiency, L-, M-cone logCS≦1.65, S-cone logCS≦0.425) to investigate the sensitivity and specificity of CCT-HD based on anomalous-type diagnosis with animalscope. The mean ± standard error L-, M-, S-cone logCS for protanopia were 0.90±0.04, 1.65±0.03, and 0.63±0.02, respectively; for deuteranopia 1.74±0.03, 1.31±0.03, and 0.61±0.06, respectively; and for age-matched NCV were 1.89±0.04, 1.84±0.04, and 0.60±0.03, respectively, with significant differences for each group except for S-CCT-HD (Bonferroni corrected α = 0.0167, p < 0.0167). The sensitivity and specificity of CCT-HD were 100% for protan and deutan in diagnosing abnormal types from 20 to 64 years of age, but the specificity decreased to 65% for protan and 55% for deutan in older persons > 65. CCT-HD is comparable to the diagnostic performance of the anomalous type in the anomaloscope for the 20-64-year-old age group. However, the results should be interpreted cautiously in those ≥ 65 years. They are more susceptible to acquired color vision deficiencies due to the yellowing of the crystalline lens and other factors.

Keywords: cone contrast test HD, color vision test, congenital color vision deficiency, red-green dichromacy, cone contrast sensitivity

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Authors: Raid Hommady, Waseem Al-Talalwah, Shorok Al Dorazi, Roger Soames

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The iliolumbar artery is a regular branch of posterior division of the internal iliac artery. The present study investigate 82 specimens to identify the origin of iliolumbar artery. The present study targets the sciatic nerve root supply from iliolumbar artery based on its origin and course. In present study, the ililumbar artery arose from the posterior division of internal iliac artery in 52.2%. In few cases, it arose from dorsomedial aspect of the internal iliac artery in 28.8%. In few cases, the iliolumbar artery arose from the dorsal aspects of the internal iliac artery as well as from the common and external iliac artery 1.7%. Also, the iliolumbar artery arose from the sciatic artery as well as from superior and inferior gluteal arteries in 5.1%. Conversely, it found to be congenital absent in 8.5%. Therefore, the posterior trunk of the internal iliac artery is the most common origin of the iliolumbar artery. With the origin variability of the iliolumbar artery, there is a vascular supply variability of the lumbosacral trunk and sacral root of sciatic nerve. The iliolumbar artery provides vascular supply for lumbosacral trunk 57.3% in whereas the sacral root in 5.1%. As a result, surgeons should pay attention to these variations to decrease iatrogenic fault.

Keywords: iliolumbar, sciatic artery, internal iliac, external iliac, posterior division

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Authors: Tan Dexian Arthur, James Wei Ming Kwek, Ian Loh, Lee Tee Sin

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Statement of the Problem: Mucoceles most commonly affect the frontal sinus, which results from chronic obstruction of the sinus ostium or cystic dilatation of mucous glands with ductal obstruction. They are known to cause bony erosion of the sinus walls, which can lead to large defects. These defects were typically managed by obliteration or cranialization of the frontal sinus. Although short term outcomes of conservative management of significant posterior table defects from fractures are promising, there have been no studies on the long-term outcomes of large dehiscences in the posterior wall of the frontal sinus. Methodology & Findings : Computed Tomography (CT) Paranasal Sinuses images were analyzed and found complete spontaneous osteogenesis of a large dehiscent frontal sinus posterior wall, secondary to a large mucocele, 9 years from functional endoscopic sinus surgery with the defect managed conservatively. Conclusion & Significance: The dura is well known for its osteogenic properties. Prior studies have showed that dura could induce osteogenesis in cutaneous tissue in the absence of other central nervous system structures. It was also demonstrated that osteogenesis and chondrogenesis were possible in zygomatic fractures by transplanting neonatal dura grafts to the bony defects in rats. Extrapolating from these studies, the authors postulate that the presence of dura beneath the bony deformity of the posterior frontal sinus wall had likely initiated the osteogenesis and restored the bony defect in the patient. In our literature review, we did not find any reports of spontaneous osteogenesis of large frontal sinus defects. While our experience is incidental, it reinforces the osteogenetic potential of an intact dura and further highlights that selected large defects of the posterior wall of the frontal sinus can be conservatively managed.

Keywords: paranasal sinus mucocele, mucocele, osteogenesis, dehiscence

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Authors: Mohamed Gomaa Mohamed

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Background and purpose: Ideal posture involves a minimal amount of stress or strain on various body segments which are aligned and worked in harmony to protect the body from injury or progressive deformity. One of most common faulty posture encountered in clinical setting is forward head posture (FHP) that was considered one of the main predictors for neck pain. Furthermore, FHP may predispose to thoracic outlet syndrome, temporomandibular joint dysfunction, shoulder pain and headache. The large financial burden related to neck disorders management raises the need to improve the quality of assessment and rehabilitation of FHP. So, the purpose of the study is to compare between measurements of FHP as indicated with craniovertebral (CVA) and gaze angles assessed from dominant and non-dominant sides in football players who extensively use their dominant side and non-athletic subjects. Participants: Twenty-four subjects were divided into 12 football players and 12 non-athletic subjects. Methods: CVA and gaze angles were assessed through photogrammetric method. Photos were taken from dominant and non-dominant sides of the subjects while assuming standing position. Paired t-test was used to assess angles differences between dominant and non-dominant sides of the subjects. Since there were no statistical differences between CVA and gaze angles measured from dominant and non-dominant sides in each group, we pooled data together to become 24 measurements for each group (12 from dominant and 12 from non-dominant). Independent t-test was used to assess angles differences between football players and non-athletic subjects. Results: No significant differences were found between CVA and gaze angles measured from dominant and non-dominant sides of both groups (P>0.05). Also, there were no significant differences between CVA and gaze angles measured from football players and non-athletic subjects (P>0.05). Conclusion: FHP can be assessed from dominant or non-dominant sides interchangeably either in football players or non-athletic subjects. Furthermore, playing football has no impact on measurements of FHP when compared to non-athletic subjects.

Keywords: dominant side, forward head posture, football players, non-dominant side

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Authors: Shirin Jalili, Ramin Ghasemi Shayan

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Atrial fibrillation is the foremost common arrhythmia around the world, with expanding recurrence famous with age. Thromboembolic occasions and strokes are the number one cause of mortality and morbidity. For patients who don't react to restorative treatment for rate and beat control, the maze method offers an elective treatment mediation. pharmaco-medical treatment for atrial fibrillation is pointed at the control of rate or cadence, intrusive treatment for atrial fibrillation is pointed at cadence control. An obtrusive approach may comprise of percutaneous catheter treatment, surgery, or a crossover approach. Since the maze method is recognized as the foremost successful way to dispense with AF, combining the maze strategy amid major cardiac surgeries has been received in clinical hone. the maze strategy, moreover known as Cox¬maze iii or the ‘cut¬and¬sew’ method, involves making different incisions within the atria to make an arrangement of scars that dispose of each potential zone of re¬entry. The electrical drive is constrained through a maze of scars that coordinates the electrical drive from the sinus node to the av node. By settling the headstrong period between ranges of scar, re¬entry is disposed of. in this article, we evaluate the Maze surgery method that's the surgical method of choice for the treatment of restorative atrial fibrillation.

Keywords: atrial fibrillation, congenital heart disease, procedure, maze surgery, treatment

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Authors: H. Merhni, A. Sbiti, I. Ratbi, A. Sefiani

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The proximal spinal muscular atrophy (SMA) is a group of neuromuscular disorders characterized by progressive muscle weakness due to the degeneration and loss of anterior motor neurons of the spinal cord. Depending on the age of onset of symptoms and their evolution, four types of SMA, varying in severity, result in a mutations of the SMN gene (survival of Motor neuron). We have analyzed the DNA of 295 patients referred to our genetic counseling; since January 1996 until October 2014; for suspected SMA. The homozygous deletion of exon 7 of the SMN gene was found in 133 patients; of which, 40.6% were born to consanguineous parents. In countries like Morocco, where the frequency of heterozygotes for SMA is high, genetic testing should be offered as first-line and, after careful clinical assessment, especially in newborns and infants with congenital hypotonia unexplained and prognosis compromise. The molecular diagnosis of SMA allows a quick and certainly diagnosis, provide adequate genetic counseling for families at risk and suggest, for couples who want prenatal diagnosis. The analysis of the SMN gene is a perfect example of genetic testing with an excellent cost/benefit ratio that can be of great interest in public health, especially in low-income countries. We emphasize in this work for the benefit of the generalization of molecular diagnosis of SMA by the technique of PCR-enzymatic digestion in other centers in Morocco.

Keywords: Exon7, PCR-digestion, SMA, SMN gene

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Authors: Suvorov Vasyl, Filipchuk Viktor

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Developmental Dysplasia of the Hip (DDH) is a frequent pathology in pediatric orthopedist’s practice. Neglected or residual cases of DDH in walking patients are usually treated using pelvic osteotomies. Plastic changes take place in hinge points due to acetabulum reorientation during surgery. Classically described hinge points and a traditional division of pelvic osteotomies on reshaping and reorientation are currently debated. The purpose of this article was to evaluate biomechanical changes during the most commonly used pelvic osteotomies (Salter, Dega, Pemberton) for DDH treatment in pediatric patients. Methods: virtual pelvic models of 2- and 6-years old patients were created, material properties were assigned, pelvic osteotomies were simulated and biomechanical changes were evaluated using finite element analysis (FEA). Results: it was revealed that the patient's age has an impact on pelvic bones and cartilages density (in younger patients the pelvic elements are more pliable - p<0.05). Stress distribution after each of the abovementioned pelvic osteotomy was assessed in 2- and 6-years old patients’ pelvic models; hinge points were evaluated. The new term "restriction point" was introduced, which means a place where restriction of acetabular deformity correction occurs. Pelvic ligaments attachment points were mainly these restriction points. Conclusions: it was found out that there are no purely reshaping and reorientation pelvic osteotomies as previously believed; the pelvic ring acts as a unit in carrying out the applied load. Biomechanical overload of triradiate cartilage during Salter osteotomy in 2-years old patient and in 2- and 6-years old patients during Pemberton osteotomy was revealed; overload of the posterior cortical layer in the greater sciatic notch in 2-years old patient during Dega osteotomy was revealed. Level of Evidence – Level IV, prognostic.

Keywords: developmental dysplasia of the hip, pelvic osteotomy, finite element analysis, hinge point, biomechanics

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Authors: Javad Vaezi, Ashraf Mohammadzadeh, Behjatalomoluk Ajami, Azin Vaezi, Aradokht Vaezi

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Introduction: Neonatal period is the first developing phase after birth, followed by different developmental processes up to the age of puberty. A neonate may be born with different oral lesions. The aim of this study was to evaluate oral lesions in newborns at Mashhad Imam Reza Hospital, which belongs to Mashhad University of Medical Sciences. Materials and Methods: In this cross–sectional descriptive study, 600 newborns were observed during 2.5 months in 2001. The total oral cavity, including the soft palate, hard palate, tongue, alveolar ridge, and oral cavity floor, was examined with a tongue blade and light. Results: Results showed that 52.6% of newborns (316 cases) had oral lesions. 0.66% cases had natal and neonatal teeth, 0.5% cases had congenital epulis, 1.8% cases were with ankyloglossia, 41.5% cases with Epstein’s pearls, 22.3% cases with Bohn nodules and 0.16% case with exostosis. There were no cases of cleft lip or cleft palate. The most frequent oral lesion observed was Epstein’s pearls. Conclusion: Our study showed that the prevalence of natal teeth in the city of Mashhad was more than in other countries except for Bohn nodule and Epstein’s pearls, which occurred less frequently than in other countries.

Keywords: newborn, oral lesion, epidemiology, frequency

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Authors: Moustafa Elwan, Sohier Shehata, Fatma Sedek, Manar Hussine

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One of the most risky factors that lead to a foot injury during physical activities are both high and low arched feet. Normally the medial longitudinal arch of the foot develops in the first 10 years of life, so flexible flat foot has an inversely relationship with age in the first decade, all over the world, the prevalence of flat foot is increasing. In approximately 15% of foot deformities cases, the deformity does not disappear and remains throughout adulthood, 90% of the clinical cases are complaining from foot problems are due to flatfoot. Flatfoot creates subtalar over pronation, which creates tibial and femoral medial rotation, and that is accompanied with increases of pelvic tilting anteriorly, which may influence the lumbar vertebrae alignment by increasing muscle tension and rotation. Objective: To study the impact of the flexible flatfoot on lumbosacral angle (angle of Ferguson). Methods: This experiment included 40 volunteers (14 females &26 males) gathered from the Faculty of Physical Therapy, Modern University of Technology and Information, Cairo, Egypt, for each participant, four angles were measured in the foot( talar first metatarsal angle, lateral talocalcaneal angle, , Calcaneal first metatarsal angle, calcaneal inclination angle) and one angle in the lumbar region (lumbosacral angle). Measurement of these angles was conducted by using Surgimap Spine software (version 2.2.9.6). Results: The results demonstrated that there was no significant correlation betweenFerguson angle and lateral talocalcaneal (r=0.164, p=0.313). Also, there was no significant correlation between Ferguson angle and talo first metatarsal “Meary’s angle" (r=0.007, p=0.968). Moreover, there was no significant correlation between Ferguson angle and calcaneal-first metatarsal angle (r=0.083, p=0.612). Also, there was no significant correlation between Ferguson angle and calcaneal inclination angle (r= 0.032, p= 0.846). Conclusion: It can be concluded that there is no significant correlation between the flexible flat foot and lumbosacral angle So, more study should be conducted in large sample and different ages and conditions of foot problems.

Keywords: calcaneal first metatarsal, calcaneal inclination, flatfoot, ferguson’s angle, lateral talocalcaneal angle, lumbosacral angle, and talar first metatarsal angle

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Authors: Waseem Al Talalwah, Shorok Al Dorazi, Roger Soames

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The inferior gluteal artery is a prominent branch of the anterior trunk of internal iliac artery. It escapes from the pelvic cavity through the greater sciatic foramen below the lower edge of piriformis. In gluteal region, it provides several muscular branches to gluteal maximus and articular branch to hip joint. Further, it provides sciatic branch to sciatic nerve. Current study investigates the origin of the inferior gluteal artery of 41 cadavers in Centre for Anatomy and Human Identification, University of Dundee, UK. It arose from the anterior trunk in 37.5% independently and 45.7% dependently as with the internal pudendal artery. Therefore, it arose from the anterior trunk in 83.2%. However, it found to be as a branch of the posterior trunk of internal iliac artery in 7.7% which is either a direct branch in 6.2% as or indirect branch in 1.5%. Beside the inferior gluteal artery arose with internal pudendal artery as from GPT of anterior division in 45.7%, it arose from the GPT arising from the internal iliac artery bifurcation site in 1.5%. Further, the inferior gluteal artery arose from the trunk with internal pudendal and obturator arteries in 1.5% referred as obturatogluteopudendal trunk. Occasionally, it arose from the sciatic artery in 1.5%. In few cases, the inferior gluteal artery found to be congenital absence in 4.6% which is compensated by the persistent sciatic artery. Therefore, radiologists have to aware of the origin variability of the inferior gluteal artery to alert surgeons. Knowing the origin of the inferior gluteal artery may help the surgeons to avoid iatrogenic sciatic neuropathy in pelvic procedures such as removing prostate or of uterine fibroid. Further, it may also prevent avascular necrosis of femur neck as well as gluteal claudication.

Keywords: inferior gluteal artery, internal iliac artery, sciatic neuropathy, gluteal claudication

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Authors: Naum Simanovsky, Vladimir Goldman, Michael Zaidman

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Background: The optimal algorithm for the management of symptomatic tarsal coalition is still under discussion in pediatric literature. It's debatable what surgical steps are essential to achieve the best outcome. Method: The investigators retrospectively reviewed the records of twelve patients with symptomatic tarsal coalition that were treated operatively between 2017 and 2019. Only painful flat feet were operated. Two patients were excluded from the study due to lack of sufficient follow-up. Ten of eleven feet were treated with the combination of calcaneal lengthening osteotomy (CLO) and resection of coalition (RC). Only one foot was operated with CLO alone. In half of our patients, Achilles lengthening was performed. For two children, medial plication was added. Short leg cast was applied to all children for 6-8 weeks, and soft shoe insoles for medial arch support were prescribed after. Demographic, clinical, and radiographic records were reviewed. The outcome was evaluated using American Orthopedic Foot and Ankle Society (AOFAS) Ankle Hindfoot Score. Results: There were seven boys and three girls. The mean age at the time of surgery was 13.9 (range 12 to 17) years, and the mean follow-up was 18 (range 8 to 34) months. The early complications included one superficial wound infection and dehiscence. Late complication includes two children with residual forefoot supination. None of our patients required additional operations during the follow-up period. All feet achieved complete deformity correction or dramatic improvement. In the last follow-up, seven feet were painless, and four children had some mild pain after intensive activities. All feet achieved excellent and good scoring on AOFAS. Conclusions: Many patients with talocalcaneal coalition also have rigid or stiff, painful, flat feet. For these patients, the resection of coalition with concomitant CLO can be safely recommended.

Keywords: Tarsal coalition, calcaneal lengthening osteotomy., flat foot, coalition resection

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Authors: Ramin Zargarbashi, Hamid Rabie, Behnam Panjavi, Hooman Kamran, Seyedarad Mosalamiaghili, Zohre Erfani, Seyed Peyman Mirghaderi, Maryam Salimi

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Background: Posterior shoulder dislocation is one of the disabling complications of brachial plexus birth injury (BPBI), and various treatment options, including capsule and surrounding muscles release for open reduction, humeral derotational osteotomy, and tendon transfers, have been recommended to manage it. In the present study, we aimed to determine the clinical outcome of open reduction with soft tissue release, tendon transfer, and glenoid osteotomy inpatients with BPBI and posterior shoulder dislocation or subluxation. Methods: From 2018 to 2020, 33 patients that underwent open reduction, glenoid osteotomy, and tendon transfer were included. The glenohumeral deformity was classified according to the Waters radiographic classification. Functional assessment was performed using the Mallet grading system before and at least two years after the surgery. Results: The patients were monitored for 26.88± 5.47 months. Their average age was 27.5±14 months. Significant improvement was seen in the overall Mallet score (from 13.5 to 18.91 points) and its segments, including hand to mouth, hand to the neck, global abduction, global external rotation, abduction degree, and external rotation degree. Hand-to-back score and the presence of trumpet sign were significantly decreased in the post-operation phase (all p values<0.001). The above-mentioned variables significantly changed for both infantile and non-infantile dislocations. Conclusion: Our study demonstrated that open reduction along with glenoid osteotomy improves retroversion, and muscle strengthening with different muscle transfers is an effective technique for BPBI.

Keywords: birth injuries, nerve injury, brachial plexus birth palsy, Erb palsy, tendon transfer

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Authors: Suteera Pradubwong, Darawan Augsornwan, Pornpen Pathumwiwathana, Benjamas Prathanee, Bowornsilp Chowchuen

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Background: Cleft lip and palate (CLP) congenital anomalies have a high prevalence in the Northeast of Thailand. A care team’s understand of treatment plan would help to guide the family of patients with CLP to achieve the treatment. Objectives: To examine the impact of the empowering volunteer project, established in the northeast Thailand. Materials and Methods: The Empowering Volunteer project was conducted in 2008 under the Tawanchai Royal Granted project. The patients and family’s general information, treatment, the group brainstorming, and satisfaction with the project were analyzed. Results: Participants were 12 children with CLP, their families and five volunteers with CLP; the participating patients were predominantly females and the mean, age was 12.2 years. The treatment comprised of speech training, dental hygiene care, bone graft and orthodontic treatment. Four issues were addressed including: problems in taking care of breast feeding; instructions’ needs for care at birth; difficulty in access information and society impact; and needs in having a network of volunteers. Conclusions: Empowering volunteer is important for holistic care of patients with CLP which provides easy access and multiple channels for patients and their families. It should be developed as part of the self-help and family support group, the development of community based team and comprehensive CLP care program.

Keywords: self-help and family support group, community based model, volunteer, cleft lip-cleft palate

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Authors: Zahra Emami, Mohammad Ebrahim Khamseh, Nahid Hashemi Madani, Iman Kermani

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The aim of the study was to map scientific research on adrenal gland diseases in the Middle East countries through the Web of Science database using scientometric analysis. Data were analyzed with Excel software; and HistCite was used for mapping of the scientific texts. In this study, from a total of 268 retrieved records, 1125 authors from 328 institutions published their texts in 138 journals. Among 17 Middle East countries, Turkey ranked first with 164 documents (61.19%), Israel ranked second with 47 documents (15.53%) and Iran came in the third place with 26 documents. Most of the publications (185 documents, 69.2%) were articles. Among the universities of the Middle East, Istanbul University had the highest science production rate (9.7%). The Journal of Clinical Endocrinology & Metabolism had the highest TGCS (243 citations). In the scientific mapping, 7 clusters were formed based on TLCS (Total Local Citation Score) & TGCS (Total Global Citation Score). considering the study results, establishment of scientific connections and collaboration with other countries and use of publications on adrenal gland diseases from high ranking universities can help in the development of this field and promote the medical practice in this regard. Moreover, investigation of the formed clusters in relation to Congenital Hyperplasia and puberty related disorders can be research priorities for investigators.

Keywords: mapping, scientific research, adrenal gland diseases, scientometric

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Authors: Azad Khalid, Sifa Dogan

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Because of its persistence in conventional treatment plants and broad prevalence in water bodies, the pharmaceutical chemical carbamazepine (CBZ) has been suggested as an anthropogenic marker to evaluate water quality. This study provides a thorough examination of the origins and occurrences of CBZ in water bodies, as well as the drug's toxicological effects and laws. Given CBZ's well-documented negative consequences on the human body when used medicinally, cautious monitoring in water is advised. CBZ residues in drinking water may enter embryos and newborns via intrauterine exposure or breast-feeding, causing congenital abnormalities and/or neurodevelopmental issues over time. The insufficiency of solo solutions was shown after an in-depth technical study of traditional and sophisticated treatment technologies. Nanofiltration and reverse osmosis membranes are more successful at removing CBZ than traditional activated sludge and membrane bioreactor techniques. Recent research has shown that severe chemical cleaning, which is essential to prevent membrane fouling, may lower long-term removal efficiency. Furthermore, despite the efficacy of activated carbon adsorption and advanced oxidation processes, a few issues such as chemical cost and activated carbon renewal must be carefully examined. Individual technology constraints lead to the benefits of combined and hybrid systems, namely the heterogeneous advanced oxidation process.

Keywords: carbamazepine, occurrence, toxicity, conventical treatment, advanced oxidation process (AOPs)

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Authors: Ghada A. Gamea, Nabila A. Yaseen, Ahmed A. Othman, Ahmed S. Tawfik

Abstract:

Infection with Toxoplasma gondii can cause serious complications in pregnant women, leading to abortion, stillbirth, and congenital anomalies in the fetus. Definitive diagnosis of T. gondii acute infection is therefore critical for the clinical management of a mother and her fetus. This study was conducted on 250 pregnant females in the first trimester who were inpatients or outpatients at Obstetrics and Gynaecology Department at Tanta University Hospital. Screening of the selected females was done for the detection of immunoglobulin (IgG and IgM), and all subjects were submitted to history taking through a questionnaire including personal data, risk factors for Toxoplasma, complaint and history of the present illness. Thirty-eight samples, including 18 IgM +ve and 20 IgM-ve cases were further investigated by the avidity and IgE ELISA tests. The seroprevalence of toxoplasmosis in pregnant women was (42.8%) based on the presence of IgG antibodies in their sera. Contact with cats and consumption of raw or undercooked meat are important risk factors that were associated with toxoplasmosis in pregnant women. By serology, it could be observed that in the IgM +ve group, only one case (5.6%) showed an acute pattern by using the avidity test, though 10 (55.6%) cases were found to be acute by the IgE assay. On the other hand, in the IgM –ve group, 3 (15%) showed low avidity, but none of them was positive by using the IgE assay. In conclusion, there is no single serological test that can be used to confirm whether T. gondii infection is recent or was acquired in the distant past. A panel of tests for detection of toxoplasmosis will certainly have higher discriminatory power than any test alone.

Keywords: diagnosis, serology, seroprevalence, toxoplasmosis

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Authors: Ali Al Orf, Khawaja Bilal Waheed

Abstract:

Background and objective: Joubert syndrome (JS) is a rare, autosomal-recessive condition. Early recognition is important for management and counseling. Magnetic resonance imaging (MRI) can help in diagnosis. Therefore, we sought to evaluate clinical presentation and MRI findings in Joubert syndrome and related disorders. Method: A retrospective review of genetically proven cases of Joubert syndromes and related disorders was reviewed for their clinical presentation, demographic information, and magnetic resonance imaging findings in a period of the last 10 years. Two radiologists documented magnetic resonance imaging (MRI) findings. The presence of hypoplasia of the cerebellar vermis with hypoplasia of the superior cerebellar peduncle resembling the “Molar Tooth Sign” in the mid-brain was documented. Genetic testing results were collected to label genes linked to the diagnoses. Results: Out of 12 genetically proven JS cases, most were females (9/12), and nearly all presented with hypotonia, ataxia, developmental delay, intellectual impairment, and speech disorders. 5/12 children presented at age of 1 or below. The molar tooth sign was seen in 10/12 cases. Two cases were associated with other brain findings. Most of the cases were found associated with consanguineous marriage Conclusion and discussion: The molar tooth sign is a frequent and reliable sign of JS and related disorders. Genes related to defective cilia result in malfunctioning in the retina, renal tubule, and neural cell migration, thus producing heterogeneous syndrome complexes known as “ciliopathies.” Other ciliopathies like Senior-Loken syndrome, Bardet Biedl syndrome, and isolated nephronophthisis must be considered as the differential diagnosis of JS. The main imaging findings are the partial or complete absence of the cerebellar vermis, hypoplastic cerebellar peduncles (giving MTS), and (bat-wing appearance) fourth ventricular deformity. LimitationsSingle-center, small sample size, and retrospective nature of the study were a few of the study limitations.

Keywords: Joubart syndrome, magnetic resonance imaging, molar tooth sign, hypotonia

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Authors: Asha Manoharan, Sooraj A. O, Anju K. G

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Enlarged vestibular aqueduct (EVA) refers to the presence of congenital sensorineural hearing loss with an enlarged vestibular aqueduct. The Audiological symptoms of EVA are fluctuating and progressive in nature and the diagnosis of EVAS can be confirmed only with radiological evaluation. Hence it is difficult to differentiate EVA from conditions like Meniere’s disease, semi-circular dehiscence, etc based on audiological findings alone. EVA in adults is easy to identify due to distinct vestibular symptoms. In children, EVA can remain either unidentified or misdiagnosed until the vestibular symptoms are evident. Motor developmental delay, especially the ones involving a change of body alignment, has been reported in the pediatric population with EVA. So, it should be made mandatory to recommend radiological evaluation in young children with fluctuating hearing loss reporting with motor developmental delay. This single case study of a baby with Enlarged Vestibular Aqueduct (EVA) primarily aimed to address the following: a) Challenges while diagnosing young patients with EVA and fluctuating hearing loss, b) Importance of radiological evaluation in audiological diagnosis in the pediatric population, c) Need for regular monitoring of hearing, hearing aid performance, and cochlear implant mapping closely for potential fluctuations in such populations, d) Importance of reviewing developmental, language milestones in very young children with fluctuating hearing loss.

Keywords: enlarged vestibular aqueduct (EVA), motor delay, radiological evaluation, fluctuating hearing loss, cochlear implant

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Authors: Waseem Al Talalwah, Shorok Ali Al Dorazi, Roger Soames

Abstract:

The inferior gluteal artery is a largest branch of the anterior division of internal iliac artery. It escapes from the pelvic cavity through the greater sciatic foramen below the lower edge of piriformis. In gluteal region, it provides several muscular branches to gluteal maximus and articular branch to hip joint. Further, it provides sciatic branch to sciatic nerve. Present study explores the origin of the inferior gluteal artery of 41 cadavers in Centre for Anatomy and Human Identification, University of Dundee, UK. It arose directly from the anterior division of internal iliac artery in 39% and 45.7% indirectly as with the internal pudendal artery. Further, it arose indirectly from anterior division with internal pudendal and obturator arteries in 1.5% referred as obturatogluteopudendal trunk in 1.5%. Therefore, it arose from the anterior division of the internal iliac artery in 86.2%. However, it found to be as a branch of the posterior division of internal iliac artery in 7.7% which is either a direct branch in 6.2% as or indirect branch (as from the sciatic artery) in 1.5%. It neither arose from anterior or posterior division in 1.5% as from gluteopudendal trunk arising from the internal iliac artery bifurcation site. In few cases, the inferior gluteal artery found to be congenital absence in 4.6% which is compensated by the persistent sciatic artery. Therefore, radiologists have to aware of the origin variability of the inferior gluteal artery to alert surgeons. Knowing the origin of the inferior gluteal artery may help the surgeons to avoid iatrogenic sciatic neuropathy or gluteal claudication due to prolonged ligation in pelvic procedures such as removing prostate or of uterine fibroid.

Keywords: inferior gluteal artery, internal pudendal, sciatic nerve, sciatic artery, gluteal claudication, sciatic neuopathy

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Authors: Mohammed Abdelsabour-Khalaf, F. Yusuf , B Brand-Saberi

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Purpose: Applications of nanotechnology nowadays extended to include a wide range of scientific areas such electron micrscopy and gene expression. The aim of the current study was to investigate the developmental expression pattern of genes involved in human glomerulo-nephropathies associated with massive proteinuria and podocyte differentiation using the chicken mesonephros as a model system. Method: We performed in situ hybridization using chicken specific mRNA probes for genes expressed in the early nephron and slit diaphragm genes. The probes used were cNeph1, cNeph2, cSim1, cLmx1b, and cAtoh8. Chicken embryos from Hamburger Hamilton developmental stage HH19 (E3) to HH 34 (E9) were used for the in situ hybridization (ISH). ISH was performed on whole mount embryos which were sectioned by vibratome. Results: Our result show that Neph1, Neph2, Sim1. Lmx1b and Atoh8 genes are dynamically expressed during nephron morphogenesis and Neph1 and Atoh8 are also specifically expressed in the podocytes during late stages of differentiation. Conclusion: We conclude from our results that the genes implicated in congenital and acquired glomerulo-nephropathies like Neph1 and Neph2 are dynamically expressed during mesonephros development pointing towards a role in the formation of the filtration barrier and the differentiation of the mesonephric podocytes. Thus the avian mesonephros could serve as a model to study human kidney diseases.

Keywords: mesonephros, chicken embryo, gene expression, immunohistochemistry

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Authors: Kumari Bandana Bhatt, Navin Bhatt

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Background: Orphans and vulnerable children (OVC) are high risk of physical, mental, sexual and emotional abuse and face social stigma and discrimination which significantly increase the risk of mental and behavioral disorders such as anxiety, depression or emotional problems even they stay in well run child care homes. The objective of this study was to estimate the prevalence of depression and determine the determinants among OVC in child care homes in Nepal. Methods: An institutional-based analytical cross-sectional study was conducted in twenty orphanages of five districts of Nepal. Six hundred two children were recruited into the study. After the informed consent form obtaining, the guardian and assent were interviewed by a semi-structured questionnaire and Beck Depression Inventory-II (BDI-II). Logistic regression was used for detecting the association between variables at the significant level of =0.05. Results: The study revealed that 33.20% of OVC had depression. Among them 66.80% of children experienced minimal depression, 17.40% had mild depression, 11.30% had moderate depression 4.50% had severe depression. Sex, alcohol drinking, congenital problem, social support and bully were the main variables associated with depression among OVC of the child care homes in Nepal. Conclusion: Prevalence of depression was high among the orphans and vulnerable children living in child care homes especially among the female children in Nepal. Therefore, early identification and instituting of preventive measures of depression are essential to reduce this problem in this special group of children living in child care homes.

Keywords: Mental health, Depression, Orphans and vulnerable children, child care homes

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Authors: Nawaf Al-Kharashi, Waseem Al-Talalwah, Shorok Al Dorazi, Roger Soames

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Superior gluteal artery is one of the largest branches of posterior division of the internal iliac artery. It passes between the lumbosacral and first sacral root to escape from the pelvic cavity through the grater sciatic foramen just above the piriformis. The current study includes 41 cadaver investigates the origin and branch of the superior gluteal artery and clarify the clinical significance. In present study, the superior gluteal artery arises from the posterior division of the internal iliac artery directly in 82.5% whereas it arises indirectly as from the sciatic artery in 15.9%. However, it is congenital absence in 1.6% which is compensated by sciatic artery. The sciatic nerve gains vascular supply from superior gluteal artery in two ways either during its course or giving lateral sacral artery in 27% and lumbar branches in 1.6%. It also supplies the adductors group and iliacus via giving obturator artery in 14.3% and in 1.6% respectively. The superior gluteal artery usually passes between lumbosacral trunk and first sacral root in 82.5% whereas it does not passes the sciatic roots as it arises behind them in 15.9%. With a variability of the superior gluteal artery origin, there is a variability of sciatic nerve roots supply. Further, the superior gluteal artery arising from sciatic artery behind the sciatic roots carries a high risk of intra-pelvic bleeding in case of posterior pelvic fracture. Prolonged ligation of the superior gluteal artery which gives lateral sacral artery may result in sciatic neuropathy. Therefore, surgeons have to be aware of the superior gluteal artery variation in origin, course and branches to reduce the iatrogenic faults.

Keywords: internal pudendal artery, inferior gluteal artery, superior gluteal artery, internal iliac artery. sciatic neuropathy, sciatic nerve

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Authors: Riksa Parikrama, Bremmy Laksono, Dadang S. H. Effendi

Abstract:

Disorder of sexual development (DSD) covers various conditions with a specific term such as Klinefelter syndrome, Turner syndrome, androgen insensitivity syndrome, and many more. The techniques to accurately diagnose those conditions has developed extensively. However, conventional karyotype and fluorescence in situ hybridization (FISH) are still widely used in many genetic laboratories as the basic method to determine chromosomal condition of DSD patients. Cytogenetic study was conducted on 36 DSD patients in Cell Culture and Cytogenetics Laboratory, Faculty of Medicine Universitas Padjadjaran, Indonesia. Most of the patients referred to the laboratory diagnosed with primary amenorrhea, hypospadias, micropenis, genitalia ambiguity, or congenital adrenal hyperplasia. The study used G-banding technique to acquire complete karyotype and followed by FISH as either confirmation or comparison method. Among 36 patients, G-banding karyotype and FISH results showed that two were diagnosed with 45, X (Turner syndrome); three with 47, XXY (Klinefelter syndrome); five with 46, XX DSD; 22 with 46, XY DSD; and four with 46,XY complete androgen insensitivity syndrome. G-banding karyotype analysis were paired with FISH using X and Y chromosome probe produced similar results. The present analysis showed that FISH is a reliable method to attain a rapid and accurate chromosome analysis result of DSD patients. Nevertheless, conventional karyotype technique is still vital if other condition appeared in DSD patients in order to get more detailed karyotype result which FISH method cannot achieve.

Keywords: chromosome, DSD, FISH, karyotype

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Authors: Kusmayadi Ita Nursita, Sundoro Ali

Abstract:

Cleft lip and palate are one of the most common congenital abnormalities in the face. It could happen to anyone, but mostly affect Asian population including Indonesia. Factors that influence the occurrence of cleft lip and palate vary from genetic to environmental factors. Children with cleft lip and palate will often have various problems such as airway disorders, eating disorders, speech and language developmental disorders, hearing disorders and psycho-social disorders, one of which is caused by appearance disorders. During his life, the child will experience multidisciplinary surgery and non-surgical treatment and can be accompanied by a psychological and financial burden on himself and his family. In Indonesia, there are no detailed scientific data on the prevalence and characteristic of cleft lip and palate patients. It was mainly caused by the absence of a national level organization, differences in geographical location, and the absence of national guidelines. This study aimed to describe the characteristic and prevalence of cleft lip and palate patients in Bandung Cleft Lip and Palate Center from 1 January 2016 to 31 December 2017. A total of 560 patients were included in the study. The highest percentage of cases are left unilateral cleft lip and palate with higher number of female patient and labioplasty as the most often surgical procedure to be conducted in Bandung Cleft Lip and Palate Center. In order to improve quality of life in patients with cleft lip and palate, early recognition and early treatment based on actual comprehensive data should be conducted. The data from Bandung Cleft Lip and Palate Center as one of the largest center of cleft lip and palate in West Java Indonesia hopefully could provide a big step of further comprehensive data collection in Indonesia and for the better overall management of cleft lip and palate in the future.

Keywords: cleft lip, cleft palate, characteristic, prevalence

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