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Background: Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy. Other associated condition includes diabetes mellitus, hypertension, hypogonadism, facial dysmorphism, and congenital heart defects. This case highlights megaloblastic anemia associated with BBS. Case presentation: A 16-year-old female patient who had a moon face, truncal obesity, polydactyly, low IQ, and visual impairment presented with the complaint of shortness of breath and easy fatiguability. She had bilateral retinal pigmentosa in her eyes and her laboratory evaluation and bone marrow biopsy revealed megaloblastic anemia secondary to vitamin B12 deficiency. She received injectable vitamin B12, folate, and red cell contrate transfusion. Her symptoms improved and she was discharged with oral medication. Conclusion: Megaloblastic anemia in BBS is rarely reported, further research is needed to find the exact cause that is necessary for proper management and better outcome. [ABSTRACT FROM AUTHOR]

Background: Juvenile dermatomyositis (JDM) is an autoimmune connective tissue disorder characterized by an inflammation of proximal muscles of both upper and lower limbs in children below the age of 18 years. The condition mainly involves the proximal muscles and skin but extra-muscular involvement such as the gastrointestinal tract, lungs, and heart are also common. Case presentation: We present a case of a 12-year-old south Asian male who developed weakness and muscular pain in all 4 extremities at 3 years of age. The condition gradually worsened recently, and the patient developed tender ulcerated skin nodules. Power in all 4 limbs was decreased and the patient was not able to perform his routine work such as combing of hair, closing a shirt button, and walking. Laboratory investigations revealed raised total leukocyte count (TLC) and erythrocyte sedimentation rate (ESR) and biopsy of the proximal muscles and skin lesions showed focal mild necrotic infiltrate involving nonnecrotic muscle fibers and calcinosis cutis respectively. A diagnosis of JDM was made and the patient was started on immunosuppressive therapy (steroids) and diltiazem. Conclusion: JDM shares clinical features with other autoimmune, genetic, and inflammatory conditions. Proper history, thorough clinical examination, and laboratory workup is needed to rule out other masquerading conditions. This case report also highlighted the importance of diltiazem in the treatment of calcinosis cutis which is more commonly seen in patients with dermatomyositis. [ABSTRACT FROM AUTHOR]

Background: Fahr's syndrome a rare neurological condition characterized by an abnormal basal ganglia calcification. The condition has both genetic and metabolic causes. Here, we describe a patient who had Fahr's syndrome and basal secondary to hypoparathyroidism, and her calcium level raised after the administration of steroid therapy. Case report: We presented a case of a 23-year-old female with seizures. Associated symptoms included headache, vertigo, disturbed sleep, and reduced appetite. Her laboratory workup revealed hypocalcemia and low parathyroid hormone level, computed tomographic (CT) scan of the brain showed diffuse calcification in the brain parenchyma. The patient was diagnosed as a case of Fahr's syndrome secondary to hypoparathyroidism. The patient was started on calcium and calcium supplementations along with anti-seizure therapy. Her calcium level raised after the initiation of oral prednisolone and she remained asymptomatic. Conclusion: Steroid could be considered as an adjunct therapy with calcium and vitamin D supplementation in patient whose Fahr's syndrome is secondary to primary hypoparathyroidism. [ABSTRACT FROM AUTHOR]

Background: Systemic lupus erythematosus (SLE) is an autoimmune disorder affecting multiple organs with different degrees of severity. SLE is typically diagnosed based on the presence of antinuclear antibodies (ANA) in the serum. However, seronegative SLE is rare and is diagnosed by clinicians when the patient's ANA is negative but fulfills other diagnostic criteria. Case report: We report a case of a 15-year-old South Asian female with SLE who had negative antinuclear antibodies yet displayed the typical clinical presentations of photosensitive maculopapular rash, joint pain, alopecia, anemia, and thrombocytopenia. Clinical evaluations in conjunction with lab results were used to establish a diagnosis of ANA-negative SLE. Conclusion: ANA positivity is an entry criterion for SLE; rarely, cases of ANA-negative SLE may present. A typical clinical presentation may help determine the diagnosis in such a scenario. However, still, the physician should rule out immunodeficiency and other systemic illnesses before reaching a diagnosis of ANA-negative pediatric SLE. [ABSTRACT FROM AUTHOR]

Background: Blue Rubber Bleb Nevus syndrome (BRBNS) is a rare disorder, that results in congenital cutaneous hemangiomas of the skin and gastrointestinal tract. Although asymptomatic, the nevi present as soft, non-mobile, dark blue, compressible papules. Clinically it presents as iron deficiency anemia due to occult gastrointestinal bleeding. Case presentation: A 22-year-old female patient presented with complaints of shortness of breath, fatigue, and palpitation for 2 months. On examination, she had a pale effect and widespread hemangiomas on her lips, hands, and feet. Laboratory results revealed iron deficiency anemia with hemoglobin (Hb) of 2.1 gm/dl and histopathology results of the hemangioma specimen showed angiokeratomas. Based on clinical manifestations and laboratory results, the patient was diagnosed with a case of BRBNS. The patient was transfused with red cell concentrate her symptoms improved but on the first follow-up visit her Hb again dropped to 8.6 mg/dl. Conclusion: A high suspicion of BRBNS diagnosis should be considered if a patient presents with iron deficiency anemia and multiple cutaneous hemangiomas. Further screening should be done to explore internal bleeding and hemangiomas. [ABSTRACT FROM AUTHOR]

Introduction: Cerebral venous sinus thrombosis (CVST) is a rare but highly fatal neurological condition mostly caused by prothrombotic conditions like antiphospholipid syndrome, factor V Leiden, and G20210A prothrombin polymorphism. Snake bites are a rare cause of cerebral venous sinus thrombosis that must be recognized and treated promptly to improve survival. Case presentation: We present a case of a 25-year-old male who developed headaches and seizures following a Viper snake bite. The diagnosis was made based on a magnetic resonance venogram (MRV) showing transverse sinus thrombosis with sigmoid sinus stenosis. Initially, the patient was treated with antivenom and supportive treatment for disseminated intravascular coagulation (DIC). After the diagnosis of CVST, the patient was treated with rivaroxaban and levetiracetam. The patient improved within 1 week of treatment and was advised to follow up in 3 months. Conclusion: A high index of suspicion for cerebral venous sinus thrombosis is required if the patient presents with headaches, seizures, or abnormal vision following a snake bite. Early diagnosis and management can prevent further neurological damage. [ABSTRACT FROM AUTHOR]

Research in language and linguistics focuses on language as a reflection of gendered culture. This article argues that language reflects as well as preserves, propagates, reinforces and perpetuates this culture. The article explores the significance of the role of language, that is, words and labels, in the formation and construction of gender identity in the social and cultural set-up. The study is based on an analysis of 42 textbooks in English, Urdu and Pakhtu, used for teaching students from grades 1 to 10 in state-owned and privately run Pakistani schools. The article contends that language serves as a means to preserve age-old gender inequalities that in turn are manipulated and exploited to preserve social structures marked by gender bias, disparity and gender segregation. The research further indicates that the language of textbooks advocates masculinity and male domination in the decision-making process, division of labour, domestic and public spheres of activity resulting in the subjugation of women. The textbooks are markedly male-oriented as revealed with regard to creation, characterisation and modelling. Further, the community follows the Pakhtun code of honour, that is, Pakhtunwali, which is reinforced in the language of these texts. [ABSTRACT FROM AUTHOR]