Search results for: rare disease

Authors: Simon B. N. Thompson

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Retinoblastoma is a rare type of childhood genetic cancer that affects children worldwide. The diagnosis is often missed due to lack of education and difficulty in presentation of the tumor. Frequently, the tumor on the retina is noticed by photography when the red-eye flash, commonly seen in normal eyes, is not produced. Instead, a yellow or white colored patch is seen or the child has a noticeable strabismus. Early detection can be life-saving though often results in removal of the affected eye. Remaining functioning in the healthy eye when the child is young has resulted in super-vision and high or above-average intelligence. Technological advancement of cameras has helped in early detection. Brain imaging has also made possible early detection of neurological diseases and, together with the monitoring of cortisol levels and yawning frequency, promises to be the next new early diagnostic tool for the detection of neurological diseases where cortisol insufficiency is particularly salient, such as multiple sclerosis and Cushing’s disease.

Keywords: cortisol, neurological disease, retinoblastoma, Thompson cortisol hypothesis, yawning

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Authors: Ezeh Chukwunonso Peter Excel, Akruti Vg

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Aim/Background: To show that even after undergoing 1-5 courses of chemotherapy for Gestational Trophoblastic Disease (GTD) reproductive health of women is intact and they conceive successfully after it. Method: Retrospective cohort analysis using data from the Lugansk regional maternity hospital database of years 1993-2013, which shows n=18 females had GTD and underwent 1-5 courses of chemotherapy. Results and Discussion: Frequency of GTD was rare. All 18 patients (pts) belong to age group of 17-39 years, covering wide range of reproductive age. Out of 18 pts, 15 had hydatidiform mole (HM) while other 3 had choriocarcinoma (CC). In anamnesis, among CC pts, 1 had early pre-eclampsia at 24 weeks and 1 had 4th week of late postpartum (PP) bleeding, while all HM pts had genital inflammatory diseases, 1 pt of HM during follow-up had High hCG and 3 times curettage in 5 months. 18 women became pregnant for 25 times after chemotherapy. Chemotherapy was given under indication of either high level of HCG, luteal cyst >6cm or path-morphological results of curettage. CC 3 pts had (2 spontaneous abortions (SA), 2 term cesarean section (CS), 1 preterm CS). HM 15 pts had (3 artificial abortion, 2 SA, 7CS (5 term and 2 preterm), 8 vaginal deliveries (7 term and 1 preterm)). Conclusion: During our research we got 22.2% preterm deliveries and 55.6% CS which is higher than the normal cases, but still all the 18 women were able to have kids successfully after chemotherapy. So we can conclude that chemotherapy for GTD was successful in keeping the reproductive health of women intact.

Keywords: reproductive health, chemotherapy, gestational trophoblastic disease, women

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Authors: Merilin Ivanova Ivanova, Kalin Dimitrov Atanasov, Stefan Petrov Enchev

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Backgroud: Neuromyelitis optica spectrum disorder, also known as Devic’s disease, is a relapsing demyelinating autoimmune inflammatory disorder of the central nervous system associated with anti-aquaporin 4 (AQP4) antibodies that can manifest with devastating secondary neurological deficits. Most commonly affected are the optic nerves and the spinal cord-clinically this is often presented with optic neuritis (loss of vision), transverse myelitis(weakness or paralysis of extremities),lack of bladder and bowel control, numbness. APS is a core clinical entity of NMOSD and adds to the clinical representation the following symptoms: intractable nausea, vomiting and hiccup, it usually occurs isolated at onset, and can lead to a significant delay in the diagnosis. The condition may have features similar to multiple sclerosis (MS) but the episodes are worse in NMO and it is treated differently. It could be relapsing or monophasic. Possible complications are visual field defects and motor impairment, with potential blindness and irreversible motor deficits. In severe cases, myogenic respiratory failure ensues. The incidence of reported cases is approximately 0.3–4.4 per 100,000. Paediatric cases of NMOSD are rare but have been reported occasionally, comprising less than 5% of the reported cases. Objective: The case serves to show the difficulty when it comes to the diagnostic processes regarding a rare autoimmune disease with non- specific symptoms, taking large interval of rimes to reveal as complete clinical manifestation of the aforementioned syndrome, as well as the necessity of multidisciplinary approach in the setting of а general paediatric department in аn emergency hospital. Methods: itpatient's history, clinical presentation, and information from the used diagnostic tools(MRI with contrast of the central nervous system) lead us to the conclusion .This was later on confirmed by the positive results from the anti-aquaporin 4 (AQP4) antibody serology test. Conclusion: APS is a common symptom of NMOSD and is considered a challenge in a differential-diagnostic plan. Gaining an increased awareness of this disease/syndrome, obtaining a detailed patient history, and performing thorough physical examinations are essential if we are to reduce and avoid misdiagnosis.

Keywords: neuromyelitis, devic's disease, hiccup, autoimmune, MRI

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Authors: W. Soufi, F. Boukli Hacene, S. Ghalem

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Alzheimer's disease (AD) is a neurodegenerative disease that leads to a progressive and permanent deterioration of nerve cells. This disease is progressively accompanied by an intellectual deterioration leading to psychological manifestations and behavioral disorders that lead to a loss of autonomy. It is the most frequent of degenerative dementia. Alzheimer's disease (AD), which affects a growing number of people, has become a major public health problem in a few years. In the context of the study of the mechanisms governing the evolution of AD disease, we have found that natural flavonoids are good acetylcholinesterase inhibitors that reduce the rate of ßA secretion in neurons. This work is to study the inhibition of acetylcholinesterase (AChE) which is an enzyme involved in Alzheimer's disease, by methods of molecular modeling. These results will probably help in the development of an effective therapeutic tool in the fight against the development of Alzheimer's disease. Our goal of the research is to study the inhibition of acetylcholinesterase (AChE) by molecular modeling methods.

Keywords: Alzheimer's disease, acetylcholinesterase, flavonoids, molecular modeling

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Authors: Ayda Youssef, Mohammed Ali Khalaf, Tarek Rafaat

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Background: Langerhans cell histiocytosis (LCH) is a rare multi-systemic disease that shows an abnormal proliferation of these kinds of cells associated with a granular infiltration that affects different structures of the human body, including the lung, liver, spleen, lymph nodes, brain, mucocutaneous, soft tissue (head and neck), and salivary glands. Evaluation of the extent of disease is one of the major predictors of patient outcome. Objectives: To recognize the pathogenesis of Langerhans cell histiocytosis (LCH), describe the radiologic criteria that are suggestive of LCH in different organs rather than the bones and to illustrate the appropriate differential diagnoses for LCH in each of the common extra-osseous sites. Material and methods: A retrospective study was done on 150 biopsy-proven LCH patients from 2007 to 2012. All patients underwent imaging studies, mostly US, CT, and MRI. These patients were reviewed to assess the extra-skeletal manifestations of LCH. Results: In 150 patients with biopsy-proven LCH, There were 33 patients with liver affection, 5 patients with splenic lesions, 55 patients with enlarged lymph nodes, 9 patient with CNS disease and 11 patients with lung involvement. Conclusions: Because of the frequent LCH children and evaluation of the extent of disease is one of the major predictors of patient outcome. Radiologist need to be familiar with its presentation in different organs and regions of body outside the commonest site of affection (bones). A high-index suspicion should be raised a biopsy is recommended in the presence of radiological suspicion. Chemotherapy is the preferred therapeutic modality.

Keywords: langerhans cell histiocytosis, extra-skeletal, pediatrics, radiology

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Authors: Mohammad Alqattan, Tala Alkhunani, Reema Al, Aldawish, Felwa Almurshard, Abdullah Alzahrani

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: Poland’s Syndrome is a congenital anomaly with two clinical features : unilateral agenesis of the pectoralis major and ipsilateral hand symbrachydactyly. Case presentation: We report a rare case of bilateral Poland’s syndrome with several unique features. Discussion: Poland’s syndrome is thought to be due to a vascular insult to the subclavian axis around the 6th week of gestation. Our patient has multiple rare and unique features of Poland’s syndrome. Conclusion: To our best knowledge, for the first time in the literature we associate Poland’s syndrome with cone-shaped epiphysis of the metacarpals of all fingers. Bilaterality, cleft hand deformity, and dextrocardia, were also rare features in our patient.

Keywords: Poland's syndrome, cleft hand deformity, bilaterality, dextrocardia, cone-shaped epiphysis

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Authors: Jenee Gooden, Kevin Vasquez-monterroso, Lady Paula Dejesus, Sandra Wainwright, Daniel Kim, Mackenzie Walker

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Introduction: Pyoderma gangrenosum (PG) is a rare, rapidly progressive, neutrophilic ulcerative colitis condition with an incidence of 3 to 10 cases per year ¹ ². Due to the similar appearance, PG is often misdiagnosed as a diabetic ulcer in diabetic patients. Though they may clinically appear similar in appearance, the treatment protocol and diagnostic criteria differ. Also, end-stage renal disease (ESRD) is often a condition seen in diabetic patients, which can have a significant impact on wound healing due to the wide range of uremic toxins³. This case study demonstrates a multidisciplinary team and multimodal treatment approach by podiatric surgery, general surgery, rheumatology, infectious disease, interventional cardiology, wound care and hyperbaric medicine for an uncontrolled diabetic with pyoderma gangrenosum of a significant circumferential wound, covering almost the entire right lower extremity. Methods:56 y.o male presents with multiple PG ulcerations, including the chest, right posterior lower extremity and sacrum. All ulcerations were previously managed by the same wound care specialist. His chief complaint was worsening PG ulcerations accompanied by a fever of 103 °F . This case study focuses on the wound to his RLE. Past medical history significant for diabetes mellitus type 2 with hemoglobin A1c of 10% and end stage renal disease (ESRD) on hemodialysis. A multidisciplinary team approach by podiatric surgery, general surgery, rheumatology, infectious disease, interventional cardiology, wound care and hyperbaric medicine was successfully used to perform right lower extremity limb salvage. The patient was managed by rheumatology for the continuation of prior medication, as well as the mutual agreement with wound care for the addition of dapsone. A coronary CT angiogram was performed by interventional cardiology, but no significant disease was noted, and no further vascular workup was necessary. Multiple surgical sharp wide excisional debridements with application of allografts and split thickness skin grafts for the circumferential ulceration that encompassed almost the entire right lower extremity were performed by both podiatric surgery and general surgery. Wound cultures and soft tissue biopsies were performed, and infectious disease managed antibiotic therapy. Hyperbaric oxygen therapy and wound vac therapy by wound care were also completed as adjunct management. Results: Prevention of leg amputation by limb salvage of the RLE was accomplished by a multidisciplinary team approach, with the wound size decreasing over a total of 29 weeks from 600 cm² to 12.0 x 3.5 x 0.2 cm. Our multidisciplinary team included podiatric surgery, general surgery, rheumatology, infectious disease, interventional cardiology, wound care and hyperbaric medicine. Discussion: Wound healing, in general, can have its challenges, and those challenges are only magnified when accompanied by multiple systemic illnesses. Though the negative impact of diabetes on wound healing is well known, the compound impact of being a diabetic with ESRD and having pyoderma gangrenosum is not. This case demonstrates the necessity for a multidisciplinary team approach with a wide array of treatment modalities to optimize wound healing and perform limb salvage with prevention of lower extremity amputation.

Keywords: diabetes, podiatry, pyoderma gangrenosum, end stage renal disease

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Authors: Saboor Saeed, Chunming Jiang

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Eosinophilic Granulomatosis with polyangiitis (EGPA), formerly known as Churg-Strauss syndrome, is a rare systemic vasculitis of small and medium-sized vessels that primarily develops in middle-aged individuals. It is characterized by asthma, blood eosinophilia, and extra pulmonary manifestations. In childhood, EGPA is extremely rare. Pulmonary and cardiac involvement is predominant in pediatric EGPA, and mortality is substantial. Generally, EGPA will develop in three stages: a) The allergic phase is commonly associated with asthma, allergic rhinitis, and sinusitis, b) the eosinophilic phase, in which the main pathology is related to the infiltration of eosinophilic organs, i.e., lung, heart, and gastrointestinal system, c) vasculitis phase involved purpura, peripheral neuropathy, and some constitutional symptoms. The key to the treatment of EGPA lies in the early diagnosis of the disease. Early application of glucocorticoids and immunosuppressants can improve symptoms and the overall prognosis of EGPA. Case Description: We presented a case of an 8-year-old boy with a history of short asthma, marked eosinophilia, and multi-organ involvement. The extremely high eosinophil level in the blood (72.50%) prompted the examination of eosinophilic leukemia before EGPA diagnosis was made. Subsequently, this disease was successfully treated. This case report shows a typical case of CSS in childhood because of the extreme eosinophilia. It emphasizes the importance of EGPA is a life-threatening cause of children's eosinophilia. Conclusion: EGPA in children has unique clinical, imaging, and histological characteristics different from those of adults. In pediatric patients, the development and diagnosis of systemic symptoms are often delayed, mainly occurring in the eosinophilic phase, which will lead to specific manifestations. At the same time, we cannot detect a genetic relationship related to EGPA.

Keywords: Churg Strauss syndrome, asthma, vasculitis, hypereosinophilia, eosinophilic granulomatosis polyangiitis

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Authors: Nice Vasconcelos Coimbra, Fábio dos Santos Gonçalves, Marisa Nascimento, Ellen Cristine Giese

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The development of chemical routes for the recovery and separation of rare earth elements (REE) is seen as a priority and strategic action by several countries demanding these elements. Among the possibilities of alternative routes, the biosorption process has been evaluated in our laboratory. In this theme, the present work attempts to assess and fit the solution equilibrium data in Langmuir, Freundlich and DKR isothermal models, based on the biosorption results of the lanthanum and samarium elements by Bacillus subtilis immobilized on calcium alginate gel. It was observed that the preference of adsorption of REE by the immobilized biomass followed the order Sm (III)> La (III). It can be concluded that among the studied isotherms models, the Langmuir model presented better mathematical results than the Freundlich and DKR models.

Keywords: rare earth elements, biosorption, Bacillus subtilis, adsorption isotherm models

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Authors: A. Kherraf, M. Bouziane, L. Azzouzi, R. Habbal

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Introduction: Hypocalcaemia is a rare cause of heart failure. We report the clinical case of a young patient with reversible dilated cardiomyopathy secondary to hypocalcaemia in the context of hyperparathyroidism. Clinical case: We report the clinical case of a 23-year-old patient with a history of thyroidectomy for papillary thyroid carcinoma 3 years previously, who presented to the emergency room with a progressive onset dyspnea and edema of the lower limbs. Clinical examination showed hypotension at 90/70 mmHg, tachycardia at 102 bpm, and edema of the lower limbs. The ECG showed a regular sinus rhythm with a prolonged corrected QT interval to 520ms. The chest x-ray showed cardiomegaly. Echocardiography revealed dilated cardiomyopathy with biventricular dysfunction and a left ventricular ejection fraction of 45%, as well as moderate mitral insufficiency by restriction of the posterior mitral leaflet, moderate tricuspid insufficiency, and a dilated inferior vena cava with a pulmonary arterial pressure estimated at 46 mmHg. Blood tests revealed severe hypocalcemia at 38 mg / l with normal albumin and thyroxine levels, as well as hyperphosphatemia and increased TSH. The patient received calcium intake and vitamin D supplementation and was treated with beta blockers, ACE inhibitors, and diuretics with good progress and progressive normalization of cardiac function. Discussion: The cardiovascular manifestations of hypocalcaemia usually appear with deeply low serum calcium levels. This can lead to hypotension, arrhythmias, ventricular fibrillation, prolonged QT interval, or even heart failure. Heart failure is a rare and serious complication of hypocalcemia but most often characterized by complete normalization of myocardial function after treatment. The etiology of the hypocalcaemia, in this case, was probably related to accidental parathyroid removal during thyroidectomy. This is why careful monitoring of calcium levels is recommended after surgery. Conclusion: Hypocalcemic heart failure is rare but reversible heart disease. Systematic monitoring of serum calcium should be performed in all patients after thyroid surgery to avoid any complications related to hypoparathyroidism.

Keywords: hypocalcemia, heart failure, thyroid surgery, hypoparathyroidism

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Authors: Zakirul Islam, Yugo Kumokawa, Quoc Thinh Tran, Motoki Kubo

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Clubroot is a disease of cruciferous plant caused by soil born pathogen Plasmodiophora brassicae and can significantly limit the production through rapid spreading. The present study was designed to investigate the effect of cultivation practices (chemical and organic soils) on clubroot disease development in Brassica rapa. Disease index and root bacterial composition were investigated for both chemical and organic soils. The bacterial biomass and diversity in organic soil were higher than those in chemical soil. Disease severity was distinct for two different cultivation methods. The number of endophytic bacteria decreased in the infected root for both soils. The increased number of endophytic bacterial number led to reduce the proliferation of pathogen spore inside the root and thus reduced the disease severity in organic plants.

Keywords: clubroot disease, bacterial biomass, root infection, disease index, chemical cultivation, organic cultivation

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Authors: Fathia Ehmouda Zaid, Reim Abudelnbi

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Cardiovascular disease is a major cause of morbidity and mortality in patients with systemic lupus erythematosus (SLE). Patients and method: Cross-section study (68) patients diagnosed as systemic lupus erythematosus (SLE), who visited the outpatient clinic of rheumatology, these patients were interviewed with a structured questionnaire about their past and current clinically for presence of Cardiovascular disease in systemic lupus and use SLEDAI, specific tests [ECG –ECHO –CXRAY] the data are analyzed statistically by Pearson's correlation coefficient was calculated and statistical significance was defined as P< 0.05,during period (2013-2014). Objective: Estimation Cardiovascular disease manifestation of systemic lupus erythematosus, correlation with disease activity, morbidity, and mortality. Result: (68) Patients diagnosed as systemic lupus erythematosus' age range from (18-48 years), M=(13±29Y), Sex were female 66/68 (97.1%), male 2/68 (2.9%),duration of disease range[1-15year], M =[7±8y], we found Cardiovascular disease manifestation of systemic lupus erythematosus 32/68 (47.1%), correlation with disease activity use SLEDAI,(r= 476** p=0.000),Morbidity,(r= .554**; p=0.000) and mortality (r=.181; p=.139), Cardiovascular disease manifestations of systemic lupus erythematosus are pericarditis 8/68 (11.8%), pericardial effusion 6/68 (8.8%), myocarditis 4/68 (5.9 %), valvular lesions (endocarditis) 1/68 (1.5%), pulmonary hypertension (PAH) 12/68 (17.6%), coronary artery disease 1/68 (1.5%), none of patients have conduction abnormalities involvement. Correlation with disease activity use SLEDAI, pericarditis (r= .210, p=.086), pericardial effusion (r= 0.079, p=.520), myocarditis (r= 272*, p=.027), valvular lesions (endocarditis) (r= .112, p= .362), pulmonary hypertension (PAH) (r= .257*, p=.035) and coronary artery disease (r=.075, p=.544) correlation between cardiovascular disease manifestations of systemic lupus erythematosus and specific organ involvement we found Mucocutaneous (r=.091 p= .459), musculoskeletal (MSK) (r=.110 p=.373), Renal disease (r=.278*, p=.022), neurologic disease (r=.085, p=.489) and Hematologic disease (r=-.264*, p=.030). Conclusion: Cardiovascular manifestation is more frequent symptoms with systemic lupus erythematosus (SLE) is 47 % correlation with disease activity and morbidity but not with mortality. Recommendations: Focus research to evaluation and an adequate assessment of cardiovascular complications on the morbidity and mortality of the patients with SLE are still required.

Keywords: cardiovascular disease, systemic lupus erythematosus, disease activity, mortality

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Authors: Berrin Şentürk

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In this study, due to the recurrence of bovine tuberculosis, in the same areas, the risk factors for the disease were determined and evaluated at the local level. This study was carried out in 32 farms where the disease was detected in the district and center of Samsun province in 2014. Predetermined risk factors, such as farm, environmental and economic risks, were investigated with the survey method. It was predetermined that risks in the three groups are similar to the risk variables of the disease on the global scale. These risk factors that increase the susceptibility of the infection must be understood by the herd owners. The risk-based contagious disease management system approach should be applied for bovine tuberculosis by farmers, animal health professionals and public and private sector decision makers.

Keywords: bovine tuberculosis, disease management, control, outbreak, risk analysis

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Authors: Naraporn Taemaitree, Pruet Areesawangvong, Satchachon Changthom, Tanin Titipungul

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Adult intussusception, unlike childhood intussusception, is rare. Approximately 5-15% of cases are idiopathic without a lead point lesion. Secondary intussusception is caused by pathological conditions such as inflammatory bowel disease, postoperative adhesions, Meckel’s diverticulum, benign and malignant lesions, metastatic neoplasms, or even iatrogenically due to the presence of intestinal tubes, jejunostomy feeding tubes or after gastric surgery. Diagnosis can be delayed because of its longstanding, intermittent, and non-specific symptoms. Computed tomography is the most sensitive diagnostic modality and can help distinguish between intussusceptions with and without a lead point and lesion localization. This report presents the case of a 49-year-old man presented with increasing abdominal pain over the past three days, loss of appetite, constipation, and frequent vomiting. Computed tomography revealed distal small bowel obstruction at the right lower quadrant with thickened outer wall and internal non-dilated small bowel loop. Emergency exploratory laparotomy was performed to clear the obstruction, which upon inspection was caused by extremely long Taenia solium parasites.

Keywords: intussusception, tape worm, Taenia solium, abdominal pain

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Authors: L. Mtibaa, N. Baccouchi, S. Hannechi, R. Abid, R. Battikh, B. Jemli

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Cryptococcosis is an opportunistic fungal infection which is commonly associated with an immune-compomised state, especially HIV infection. Rare cases of cryptococcosis have been reported in patients with multiple myeloma (MM), and they are all at a late stage of the disease. However, the inaugural character of cryptococcosis revealing the MM at an early stage has never been reported to our best knowledge. We presented here a case of neuromeningeal cryptococcosis in a patient without any apparent underlying conditions, who has revealed IgA-λ MM. Early detection and treatment of cryptococcosis are essential to reduce morbidity and for a better outcome.

Keywords: Cryptococcosis, Cryptococcus, hematologic, malignancy

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Authors: Atitallah Sofien, Bouyahia Olfa, Mohsen S., Boussetta Khadija, Khemiri Monia, Fitouri Zohra, Boukthir Samir

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Introduction: Megaloblastic anemia (MA) is rare in children. The diversity of its etiologies can lead to misdiagnosis and may, therefore, delay the treatment. The aim of this study was to describe the epidemiological and etiological characteristics of children followed for MA at the Tunis children's hospital. Methodology: This is a retrospective study over a period of 25 years of all cases of MA in children in the Children's Hospital of Tunis. The diagnosis of MA was confirmed by myelogram in all patients. Results: We collected 29 observations, with an incidence of 1.2 cases/year and a sex ratio of 1. Sixty percent of the children were aged between 3 months and 2 years. The consultation time was between 15 and 30 days in a third of the patients. The clinical examination showed hypotrophy in 13% of cases, hepatosplenomegaly in 6% of cases, neurological or neurosensory damage in 23% of cases, and cardiac damage in 10% of children. MA was associated with thrombocytopenia in 65% of cases and leukoneutropenia in 24% of cases. One in 5 children had pancytopenia. The etiologies were mainly thiamine deficiency, Immerslund disease (20%), nutritional deficiency (13%), and Biermer anemia (13%). One of the patients presented an MA revealing visceral leishmaniasis. The outcome under vitamin B12, the dose of which was adapted to each etiology, was favorable for all patients. Conclusion: MA is rare in children with multiple etiologies that are mainly dominated by hereditary conditions and nutritional deficiencies, mainly in vitamin B12. The association with visceral leishmaniasis seems to be a particularity in our country not reported in the literature.

Keywords: megaloblastic anemia, children, vitamin B12, anemia

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Authors: H. Parameshwar Naik, Shripad Kulkarni

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Powdery mildew is a serious disease among the fungal in high humid areas with varied temperature conditions. In recent days disease becomes very severe due to uncertain weather conditions and unique character of the disease is, it produces white mycelia growth on upper and lower leaf surfaces and in severe conditions it leads to defoliation. Results of the experiment revealed that sowing of crop in the I fortnight (FN) of July recorded the minimum mean disease severity (7.96 %) followed by crop sown in II FN of July (13.19 %) as against the crop sown in II FN of August (41.44 %) and I FN of September (33.78 %) and the I fortnight of October (33.77 %). In the first date of sowing infection started at 45 DAS and progressed till 73 DAS and it was up to 14.66 Percent and in second date of sowing disease progressed up to 22.66 percent and in the third date of sowing, it was up to 59.35 percent. Afterward, the disease started earlier and progressed up to 66.15 percent and in sixth and seventh date of sowing disease progressed up to 43.15 percent and 59.85 percent respectively. Disease progress is very fast after 45 days after sowing and highest disease incidence was noticed at 73 DAS irrespective of dates of sowing. From the results of the present study, it is very clear that disease development will be very high if crop sown in between 1st fortnight of August and the 1st fortnight of September.

Keywords: cucumber, India, Karnataka, powdery mildew

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Authors: Parul Garg

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Bouveret Syndrome is a rare presentation described as Gastric Outlet Obstruction secondary to Gallstone Ileus. Here we describe the 3-year progression of disease from cholelithiasis to gallstone ileus with relevant imaging findings. The patient was treated under an Upper Gastrointestinal Surgery service with surgical intervention in the form of a laparoscopic assisted procedure with midline laparotomy. She recovered well and was discharged 1 week post operatively. No complications occurred.

Keywords: Cholelithiasis, Bouveret syndrome, Gallstone Ileus, gastric outlet obstruction

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Authors: Ying Zhu, Ning Wu, Hai-Dong Huang, Yu-Chao Dong, Qin-Ying Sun, Wei Zhang, Qin Wang, Qiang Li

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Background and study aims: Tracheobronchopathia osteochondroplastica (TO) is an uncommon disease of the tracheobronchial system that leads to narrowing of the airway lumen from cartilaginous and/or osseous submucosal nodules. The aim of this study is to perform a detailed review of this rare disease in a large cohort of patients with TO proven by fiberoptic bronchoscopy from China. Patients and Methods: Retrospective chart review was performed on 41,600 patients who underwent bronchoscopy in the Department of Respiratory Medicine of Changhai Hospital between January 2005 and December 2012. Cases of TO were identified based on characteristic features during bronchoscopic examination. Results: 22 cases of bronchoscopic TO were identified. Among whom one-half were male and the mean age was 47.45 ±10.91 years old. The most frequent symptoms at presentation were chronic cough (n=14) and increased sputum production (n=10). Radiographic abnormalities were observed in 3/18 patients and findings on computed tomography consistent with TO such as beaded intraluminal calcifications and/or increased luminal thickenings were observed in 18/22 patients. Patients were classified into the following categories based on the severity of bronchoscopic findings: Stage I (n=2), Stage II (n=6) and Stage III(n=14). The result that bronchoscopic improvement was observed in 2 patients administered with inhaled corticosteroids suggested that resolution of this disease is possible. Conclusions: TO is a benign disease with slow progression, which could be roughly divided into 3 stages on the basis of the characteristic endoscopic features and histopathologic findings. Chronic inflammation was thought to be more important than the other existing plausible hypotheses in the course of TO. Inhaled corticosteroids might have some impact on patients at Stage I/II.

Keywords: airway obstruction, bronchoscopy, etiology, Tracheobronchopathia osteochondroplastica (TO), treatment

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Authors: Agi Sunday

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A descriptive analysis of reported cases of sickle cell disease and the level of awareness about genetic counselling in 30 hospitals were carried out. Additionally, 150 individuals between ages 16-45 were randomly selected for evaluation of genetic counselling awareness. The main tools for this study were questionnaires which were taken to hospitals, and individuals completed the others. The numbers of reported cases of sickle cell disease recorded in private, public and teaching hospitals were 14 and 57; 143 and 89; 272 and 57 for the periods of 1995-2000 and 2001-2005, respectively. A general informal genetic counselling took place mostly in the hospitals visited. 122 (86%) individuals had the knowledge of genetic disease and only 43 (30.3%) individuals have been exposed to genetic counselling. 64% of individuals agreed that genetic counselling would help in the prevention of genetic disease.

Keywords: sickle disease, genetic counseling, genetic testing, advocacy

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Authors: Nazli Eslamirad, Peter C. Junk, Jun Wang, Glen B. Deacon

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Since coordination behavior of pyrazoles and pyrazolate ions are widely versatile towards a great range of metals such as d-block, f-block as well as main group elements; they attract interest as ligands for preparing compounds. A variety of rare-earth pyrazolate complexes have been synthesized by redox transmetalation/protolysis (RTP) previously, therefore, a variety of rare-earth pyrazolate complexes using two pyrazoles, 3,5-dimethylpyrazole (Me₂pzH) and 3,5-di-tert -butylpyrazolate (t-Bu₂pzH), in which the structures span the whole La-Lu array beside Sc and Y has been synthesized by RTP reaction. There have been further developments in this study: Synthesizing structure of [Tb(Me₂pz)₃(thf)]₂ which is isomorphous with those of the previously reported [Dy(Me₂pz)₃(thf)]₂ and [Lu(Me₂pz)₃(thf)]₂ analogous that has two µ-1(N):2(Nʹ)-Me2pz ligands (the most common pyrazolate ligation for non-rare-earth complexes). Previously most of the reported compounds using t-Bu2pzH were monomeric compounds however the lanthanum derivative [La(Me₂pz)₃thf₂] ,which has been reported previously without crystal structure, has now been structurally characterized, along with cerium and lutetium analogue. Also a polymeric structure with samarium has now been synthesized which the neodymium analogue has been reported previously and comparing these polymeric structures can support the idea that the geometry of Sm(tBu₂pz)₃ affect the coordination of the solvent. Also, by using 1,2-dimethoxyethane (DME) instead of tetrahydrofuran (THF) new [Er(tBu₂pz)₃ (dme)₂] has now been reported.

Keywords: lanthanoid complexes, pyrazolate, redox transmetalation/protolysis, x-ray crystal structures

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Authors: Kinnsley Travis, Camerron M. Crowder

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Mapk8ip3 (Mitogen-Activated Protein Kinase 8 Interacting Protein 3) is a gene that codes for the JIP3 protein, which is a part of the JIP scaffolding protein family. This protein is involved in axonal vesicle transport, elongation and regeneration. Variants in the Mapk8ip3 gene are associated with a rare-genetic condition that results in a neurodevelopmental disorder that can cause a range of phenotypes including global developmental delay and intellectual disability. Currently, there are 18 known individuals diagnosed to have sequenced confirmed Mapk8ip3 genetic disorders. This project focuses on examining the impact of a subset of missense patient variants on the Jip3 protein function by overexpressing the mRNA of these variants in a zebrafish knockout model for Jip3. Plasmids containing cDNA with individual missense variants were reverse transcribed, purified, and injected into single-cell zebrafish embryos (Wild Type, Jip3 -/+, and Jip3 -/-). At 6-days post mRNA microinjection, morphological, behavioral, and microscopic phenotypes were examined in zebrafish larvae. Morphologically, we compared the size and shape of the zebrafish during their development over a 5-day period. Total locomotive activity was assessed using the Microtracker assay and patterns of movement over time were examined using the DanioVision assay. Lastly, we used confocal microscopy to examine sensory axons for swelling and shortened length, which are phenotypes observed in the loss-of-function knockout Jip3 zebrafish model. Using these assays during embryonic development, we determined the impact of various missense variants on Jip3 protein function, compared to knockout and wild-type zebrafish embryo models. Variants in the gene Mapk8ip3 cause rare-neurodevelopmental disorders due to an essential role in axonal vesicle transport, elongation and regeneration. A subset of missense variants was examined by overexpressing the mRNA of these variants in a Jip3 knock-out zebrafish. Morphological, behavioral, and microscopic phenotypes were examined in zebrafish larvae. Using these assays, the spectrum of disorders can be phenotypically determined and the impact of variant location can be compared to knockout and wild-type zebrafish embryo models.

Keywords: rare disease, neurodevelopmental disorders, mrna overexpression, zebrafish research

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Authors: G. Çelik Gül, F. Kurtuluş

Abstract:

Rare earths containing complex metal oxides have drawn much attention due to physical, chemical and optical properties which make them feasible in so many areas such as non-linear optical materials and ion exchanger. We have researched a systematic study to obtain rare earth containing zirconium molybdate compound, characterization, investigation of crystal system and calculation of unit cell parameters.  After a successful synthesis of Nd₂Zr₃(MoO₄)₉ which is a member of rare earth metal containing complex oxides family, X-ray diffraction (XRD), High Score Plus/Rietveld refinement analysis, and Fourier Transform Infrared Spectroscopy (FTIR) were completed to determine the crystal structure. Morphological properties and elemental composition were determined by scanning electron microscopy (SEM) and energy dispersive X-ray (EDX) analysis. Thermal properties were observed via Thermogravimetric-differential thermal analysis (TG/DTA).

Keywords: Nd₂Zr₃(MoO₄)₉, powder x-ray diffraction, solid state synthesis, zirconium molybdates

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Authors: Yaser Meeralam, Walaa Alharthi, Hadeel Ashi, Alaa Bakhsh, Kholood Aljabri, Ebtihal Bin Salim

Abstract:

Background:Basidiobolusranrum causes one of the rare fungal diseases that infects mainly immunocompetent individuals. Gastrointestinal Basidiobolomycosis (GIB) is a rare and uncommon form of this fungal infection. It’s still ambiguous how this fungus is reaching the gastrointestinal tract leading to Gastrointestinal Basidiobolomycosis. Objective: To summarize the clinical features, imaging, and histopathological of patients diagnosed with GIB in our institution. Patients and methods: A series of five cases of patients who diagnosed by basidiobolomycosis in King Abdullah Medical City, Makkah, Saudi Arabia, which reviewed by latest literature related to diagnosis and treatment. Results: Most of the patients were externally evaluated and were initially misdiagnosed. Some of them were suspected of colonic malignancy, other presumed to have hepatic hemangioma and fistulizing crohn’s disease. The definitive diagnosis is often based on histopathological examination and fungal culture of the surgically resected mass. An optimum standardized treatment of basidiobolomycosis has not yet been established. Conclusion: Deeper knowledge of clinical characteristics, diagnosis, and treatment of basidiobolomycosis will allow early initiating of treatment with a subsequent positive impact on the patients’ outcome. More studies are needed to establish a definite treatment.

Keywords: gastrointestinal infection, crohn's mimics, malignancy mimics, fungal infection

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Authors: Shraddha Gopal, Jayam Lazarus

Abstract:

Aims: To study the referral practice and impact of DAT-scan in the diagnosis or exclusion of Parkinson’s disease. Settings and Designs: A retrospective study Materials and methods: A retrospective study of the results of 60 patients who were referred for a DAT scan over a period of 2 years from the Department of Neurology at Northern Lincolnshire and Goole NHS trust. The reason for DAT scan referral was noted under 5 categories against Parkinson’s disease; drug-induced Parkinson’s, essential tremors, diagnostic dilemma, not responding to Parkinson’s treatment, and others. We assessed the number of patients who were diagnosed with Parkinson’s disease against the number of patients in whom Parkinson’s disease was excluded or an alternative diagnosis was made. Statistical methods: Microsoft Excel was used for data collection and statistical analysis, Results: 30 of the 60 scans were performed to confirm the diagnosis of early Parkinson’s disease, 13 were done to differentiate essential tremors from Parkinsonism, 6 were performed to exclude drug-induced Parkinsonism, 5 were done to look for alternative diagnosis as the patients were not responding to anti-Parkinson medication and 6 indications were outside the recommended guidelines. 55% of cases were confirmed with a diagnosis of Parkinson’s disease. 43.33% had Parkinson’s disease excluded. 33 of the 60 scans showed bilateral abnormalities and confirmed the clinical diagnosis of Parkinson’s disease. Conclusion: DAT scan provides valuable information in confirming Parkinson’s disease in 55% of patients along with excluding the diagnosis in 43.33% of patients aiding an alternative diagnosis.

Keywords: DATSCAN, Parkinson's disease, diagnosis, essential tremors

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Authors: Suyong Kim

Abstract:

Recently because of the rise in the price of rare earth magnet, interest of non-rare earth or less-rare earth motor is growing. Especially to achieve the high power density, Spoke-Type BLDC (Brushless Permanent Magnet) Motor with ferrite permanent magnet are spotlighted. But Spoke-Type Ferrite BLDC Motor has much of magnetic flux leakage in the direction of rotor shaft. In order to solve this problem, there are two conventional ways. But conventional ways bring the increases of product cost or the decreases of the power density. Therefore, this paper proposes new Spoke-Type BLDC Rotor shape that has the advantages of both conventional methods. The new shape is consists of a one-piece core. The inside and the outside of the rotor are open alternately. So it can take reduced production cost and high power density.

Keywords: motor, BLDC, spoke, ferrite

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Authors: N. C. van der Merwe, J. Oosthuizen, M. F. Makhetha, J. Adams, B. K. Dajee, S-R. Schneider

Abstract:

Women representing high-risk breast cancer families, who tested negative for pathogenic mutations in BRCA1 and BRCA2, are four times more likely to develop breast cancer compared to women in the general population. Sequencing of genes involved in genomic stability and DNA repair led to the identification of novel contributors to familial breast cancer risk. These include BLM and PALB2. Bloom's syndrome is a rare homozygous autosomal recessive chromosomal instability disorder with a high incidence of various types of neoplasia and is associated with breast cancer when in a heterozygous state. PALB2, on the other hand, binds to BRCA2 and together, they partake actively in DNA damage repair. Archived DNA samples of 66 BRCA1/2 negative high-risk breast cancer patients were retrospectively selected based on the presence of an extensive family history of the disease ( > 3 affecteds per family). All coding regions and splice-site boundaries of both genes were screened using High-Resolution Melting Analysis. Samples exhibiting variation were bi-directionally automated Sanger sequenced. The clinical significance of each variant was assessed using various in silico and splice site prediction algorithms. Comprehensive screening identified a total of 11 BLM and 26 PALB2 variants. The variants detected ranged from global to rare and included three novel mutations. Three BLM and two PALB2 likely pathogenic mutations were identified that could account for the disease in these extensive breast cancer families in the absence of BRCA mutations (BLM c.11T > A, p.V4D; BLM c.2603C > T, p.P868L; BLM c.3961G > A, p.V1321I; PALB2 c.421C > T, p.Gln141Ter; PALB2 c.508A > T, p.Arg170Ter). Conclusion: The study confirmed the contribution of pathogenic mutations in BLM and PALB2 to the familial breast cancer burden in South Africa. It explained the presence of the disease in 7.5% of the BRCA1/2 negative families with an extensive family history of breast cancer. Segregation analysis will be performed to confirm the clinical impact of these mutations for each of these families. These results justify the inclusion of both these genes in a comprehensive breast and ovarian next generation sequencing cancer panel and should be screened simultaneously with BRCA1 and BRCA2 as it might explain a significant percentage of familial breast and ovarian cancer in South Africa.

Keywords: Bloom Syndrome, familial breast cancer, PALB2, South Africa

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Authors: Rita Alfattal, Maryam Alfarhan, Adeeb M. Algaith, Buthaina Albash, Reem M. Elshafie, Asma Alshammari, Ahmad Alahmad, Fatima Dashti, Rasha Alsafi, Hind Alsharhan

Abstract:

Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological findings. The underlying molecular defects affecting mitochondrial CIII assembly factors are few and yet to be identified. LYRM7 assembly factor is required for proper CIII assembly where it acts as a chaperone for the Rieske iron‐sulfur (UQCRFS1) protein in the mitochondrial matrix and stabilizing it. We present here the seventeenth individual with LYRM7-associated mitochondrial leukoencephalopathy harboring a previously reported rare pathogenic homozygous LYRM 7 variant, c.2T>C, (p.Met1?). Like previously reported individuals, our 4-year-old male proband presented with recurrent metabolic and lactic acidosis, encephalopathy, and myopathy. Further, he has additional, previously unreported features, including an acute stroke like episode with bilateral central blindness and optic neuropathy, recurrent hyperglycemia and hypertension associated with metabolic crisis. However, he has no signs of psychomotor regression. He has been stable clinically with residual left-sided reduced visual acuity and amblyopia, and no more metabolic crises for 2-year-period while on the mitochondrial cocktail. Although the reported brain MRI findings in other affected individuals are homogenous, it is slightly different in our index, revealing evidence of bilateral almost symmetric multifocal periventricular T2 hyperintensities with hyperintensities of the optic nerves, optic chiasm, and corona radiata but with no cavitation or cystic changes. This report describes new clinical and radiological findings of LYRM7-associated disease. The report also summarizes the clinical and molecular data of previously reported individuals describing the full phenotypic spectrum.

Keywords: LYRM7 gene defect, mitochondrial disease, , lactic acidosis, , genetic disorder

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Authors: Sanjeev Kumar Shukla, Govind Singh, Prabhat Pant Shahzad Ahmad

Abstract:

Background: Graves’ disease is an autoimmune disorder with a genetic predisposition, and CD40 plays a pathogenic role in various autoimmune diseases. A single nucleotide polymorphism at position –1 of the Kozak sequence of the 5 untranslated regions of the CD40 gene of exon 1 has been reported to be associated with the development of Graves’ Disease. Objective: The aim of the present study was to investigate whether CD40 gene polymorphism confers susceptibility to Graves’ disease in the Kumaon region. CD40 gene polymorphisms were studied in Graves’ Disease patients (n=50) and healthy control subjects without anti-thyroid autoantibodies or a family history of autoimmune disorders (n=50). Material and Method: CD40 gene polymorphisms were studied in fifty Graves’ Disease patients and fifty healthy control subjects. All samples were collected from STG Hospital, Haldwani, Nainital. A C/T polymorphism at position –1 of the CD40 gene was measured using the polymerase chain reaction-restriction fragment length polymorphism. Results: There was no significant difference in allele or genotype frequency of the CD40 SNP between Graves’ Disease and control subjects. There was a significant decrease in the TT genotype frequency in the Graves’ Disease patients who developed Graves’ Disease after 40 years old than those under 40 years of age. These data suggest that the SNP of the CD40 gene is associated with susceptibility to the later onset of Graves’ Disease. Conclusion: The CD40 gene was a different susceptibility gene for Graves’ Disease within certain families because it was both linked and associated with Graves’ Disease.

Keywords: autoimmune diseases, pathogenesis, diagnosis, therapy

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Authors: Pármenas Costa Macedo do Nascimento

Abstract:

Periodontal disease is the most common disease in the oral cavity of felines. It starts with the accumulation of bacteria on the tooth surface supporting the tissues of the periodontal tissue, namely gums, alveolar bone, cementum, and periodontal ligament. The main clinical symptom observed by the owner is bad breath, which may lead to local and systemic consequences depending on the stage of periodontal disease, such as bleeding and bone loss. Therefore, the study is important to educate tutors to take better care of the felines oral health in order to try to prevent the disease. For this epidemiological study, the target population has been felines, located on the outskirts of Manaus, in the state of Amazonas, with a geographic area of 155.68 km², with no defined breed, from October 1st to 10th, 2021, whose samples has been randomly selected, with a detailed profile. The variables of interest for this study have been: absence or presence of periodontal disease, gender, age (delimited by age group), and condition (domiciled or homeless). Using a sample of 40 felines from 4 districts of the east side of Manaus chosen at random, an oral exam has been made to identify the studied disease. The animal's apparent age, condition, sex, and presence or absence of periodontal disease has been noted. It has been observed that 70% (28/40) of them had periodontal disease, mostly females, aged between 0 and 5 years and domiciled, totaling 30% (12/40).

Keywords: felines, oral cavity, oral exam, periodontal disease

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