129 hasil untuk "Ansar, Muhammad"
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SAT-613 Heterophile Antibody Interference Causing Elevated TSH Levels: A Challenging Diagnosis
Introduction Patients with persistently abnormal thyroid function tests despite increasing thyroid hormone supplementation should be investigated for several clinically important causes. We present an interesting such case in which widely fluctuating TSH measurements were caused by…
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Exploring the pathological mechanisms underlying Cohen syndrome
Cohen Syndrome (CS) is a rare autosomal recessive disorder caused by biallelic mutations in the VPS13B gene. It is characterized by multiple clinical features, including acquired microcephaly, developmental delay, intellectual disability, neutropenia, and retinal degeneration. VPS13B is part of the…
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MON-345 Recovery of Adrenal Function Following Bilateral Adrenal Hemorrhage: Two Case Reports
Background: Spontaneous or traumatic bilateral adrenal hemorrhage is a rare but potentially life-threatening condition which usually results in permanent adrenal insufficiency requiring life-long glucocorticoid and mineralocorticoid replacement. We present two patients with bilateral adrenal…
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Recurrent Gastrointestinal Symptoms and Diagnosis of Superior Mesenteric Artery Syndrome
This is a case of a young lady who was admitted multiple times with complaints of inability to digest food and abdominal pain. She had nausea and vomiting for long periods and was unable to tolerate orally. As she was unable to tolerate oral feeding and losing weight, she was started on nasogastric…
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Hashimoto Encephalopathy With Status Epilepticus
Hashimoto encephalopathy (HE) is a heterogenous neurological syndrome that can manifest with encephalopathy, seizures, headaches, and variable neuropsychiatric disturbances. The underlying mechanism remains unclear; however, autoimmune pathogenesis is suspected due to its association with…
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Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort
BACKGROUND: Hearing loss or hearing impairment is a clinically and genetically heterogeneous disorder. More than 117 genes were discovered to date in hereditary, nonsyndromic hearing loss (NSHL). Identifying novel gene variants and their frequency in specific populations is valuable for public…
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Efficient energy and memory storage capabilities in optimized BiFeO(3)/MnMoO(4)/NiFe(2)O(4) triphasic composites for futuristic multistate devices
The emergence of multiferroic materials particularly bismuth iron oxide (BiFeO(3)) with distinctive magnetoelectric, and high energy storage capabilities, present pivotal aspects for next-generation memory storage devices. However, intrinsically weak magnetoelectric coupling limits their widespread…
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Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing
BACKGROUND: Inherited eye disorders are a significant cause of vision loss worldwide. According to the World Health Organization (WHO) estimates approximately 2.2 billion people have some degree of vision loss, but a significant proportion of these are blind since early childhood. Due to poor…
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Post-transcriptional inhibition of hepatitis C virus replication through small interference RNA
BACKGROUND: Hepatitis C Virus (HCV) infection is a major health problem throughout world that causes acute and chronic infection which resulted in liver fibrosis, hepatocellular carcinoma and death. The only therapy currently available for HCV infection is the combination of pegylated interferon…
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A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family
BACKGROUND: Grebe-type chondrodysplasia (GCD) is a rare autosomal recessive syndrome characterized by severe acromesomelic limb shortness with non-functional knob like fingers resembling toes. Mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene cause Grebe-type chondrodysplasia…
Juga tersedia di: DOAJ
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A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31
Ectodermal dysplasias (EDs) are a large heterogeneous group of inherited disorders exhibiting abnormalities in ectodermally derived appendages such as hair, nails, teeth and sweat glands. EDs associated with reticulated pigmentation phenotype are rare entities for which the genetic basis and…
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Lapachol-Induced Upregulation of Sirt1/Sirt3 is linked with Improved Skin Wound Healing in Alloxan-induced Diabetic Mice
Timely repair of damaged skin is very important to maintain the integrity and homeostasis of skin, but the wound healing process is compromised in diabetic patients due to several extrinsic and intrinsic factors thus lead to leg amputation and death eventually. Sirtuins, a family of seven conserved…
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A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family
BACKGROUND: Acrocapitofemoral dysplasia (ACFD) is a rare autosomal recessive disorder, characterized by postnatal onset of disproportionate short stature with short limbs, brachydactyly, cone‐shaped epiphysis, narrow thorax, and relatively large head. To date, only three homozygous missense…
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Proceedings of the 12(th) International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders
The 12(th) International Meeting on Neuroacanthocytosis, Cohen Syndrome, and other VPS13-related Disorders was held on September 12(th)–14(th), 2025, at the Jules Gonin Eye Hospital in Lausanne, Switzerland. This long-standing series of international symposia has traditionally focused on…
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A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families
Mutations in the estrogen-related receptor beta (ESRRB) gene is the underlying cause of autosomal recessive nonsyndromic hearing impairment (ARNSHI) due to the DFNB35 locus which maps to 14q24.3. A genome scan of a large consanguineous Pakistani pedigree with ARNSHI established linkage with a…
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A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy
GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, intellectual disability (ID), and motor…
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Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing
Degenerative and developmental eye disorders, including inherited retinal dystrophies (IRDs), anophthalmia, and congenital cataracts arise from genetic mutations, causing progressive vision loss or congenital structural abnormalities. IRDs include a group of rare, genetically, and clinically…
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Acute Thrombocytopaenia Induced by Teicoplanin in a Patient With Right Leg Cellulitis
Platelets are one of the important cells in the human blood that regulate the coagulation system. Abnormalities in platelets may lead to thrombosis or bleeding. Acute thrombocytopaenia carries a wide differential in a hospitalised patient, and drug-induced thrombocytopaenia is one of the uncommon…
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Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
BACKGROUND: Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date. Mutations in WD repeat protein 62 are associated with autosomal recessive primary…