[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing].

Objective: To assess the value of genetic screening by high-throughput sequencing (HTS) for the early diagnosis of neonatal diseases.

Methods: A total of 2 060 neonates born at Ningbo Women and Children's Hospital from March to September 2021 were selected as the study subjects. All neonates had undergone conventional tandem mass spectrometry metabolite analysis and fluorescent immunoassay analysis.

Arthrogryposis, renal dysfunction, cholestasis syndrome in a neonate: an uncommon association of common problems.

A male infant born out of non-consanguineous marriage to a primigravida presented to us as his third hospitalisation with ichthyotic lesions all over the body, cholestatic jaundice, multiple joint contractures and a history of recurrent sepsis. Blood and urine investigations revealed Fanconi syndrome, hypothyroidism and direct hyperbilirubinaemia with elevated liver enzymes and normal gamma glutamyl transpeptidase levels. The combination of arthrogryposis, renal dysfunction and cholestasis led to the suspicion of arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome, which was then proved by genetic testing.

Gitelman syndrome with Graves' disease leading to rhabdomyolysis: a case report and literature review.

A 14-year-old male patient who suffered from limb numbness, fatigue, and hypokalemia was considered Graves' disease (GD) complicated with thyrotoxic periodic paralysis (TPP) at the first diagnosis. Although with the treatment of antithyroid drugs, he developed severe hypokalemia and rhabdomyolysis (RM). Further laboratory tests revealed hypomagnesemia, hypocalciuria, metabolic alkalosis, hyperrenin, and hyperaldosteronemia.

Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.

TANGO2-related disease is an autosomal recessive multisystem disease associated with developmental delay and infancy-onset recurrent metabolic crises with early mortality. Several studies have reported dysfunction in endoplasmic reticulum-to-Golgi traffic and mitochondrial homoeostasis as the underlying pathophysiology. We report a 40-year-old woman affected by limb-girdle weakness and mild intellectual disability caused by the recurrent deletion of exons 3-9 in homozygosity in the TANGO2 gene.

GIST (ILEAL) Revealed by Peculiar Paraneoplastic-myositis and Hypo-Thyroidism.

Introduction: To our knowledge this is the first & only case report in India wherein malignant ileal gastrointestinal-stromal-tumor presented with paraneoplastic-myositis & hypothyroidism.

Result: Herein August-2019 IPGMER-SSKM-kolkata 49-year-male laborer presented with 15-days acute onset gradually progressing symmetrical poly-arthralgia (bilateral shoulders & knee) and 10-days acute progressive symmetrical proximal myopathy along-with painfully swollen bilateral thighs and arms (restricted range of motion) besides fatigue for similar duration. absent characteristic skin changes.

All in One: Varied Manifestations of Hypocalcemia in the Same Patient.

Introduction: The calcium ion plays a critical role in normal cellular functioning and signaling neuro muscular signaling, cardiac contractility, hormone secretion and blood coagulation. The extra cellular calcium levels are maintained within a narrow range through a series of feedback mechanisms that involve parathormone and vitamin D.

Materials: Herein we present a patient with hypocalcemia who presented with many of its features.

A Small-for-Gestational-Age Infant with MIRAGE Syndrome Who Developed Heat Stroke and Rhabdomyolysis due to Severe Temperature Instability.

MIRAGE syndrome is characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. This report describes heat stroke and rhabdomyolysis caused by anhidrosis as a symptom of MIRAGE syndrome in a small-for-gestational-age (SGA) female neonate born at 32 weeks of gestation (birth weight, 911 g [-3.8 SD]).

Tuberculous flexor tenosynovitis of wrist and hand.

A woman in her 40s presented with a swelling over her left distal forearm and hand since 7 months, progressively increasing in size. She had history of difficulty in moving her wrist and fingers with no associated pain. She had no immune or chronic conditions except for hypothyroidism for which she was on regular medication.

Rhabdomyolysis: A Rare Presentation of Hashimoto Thyroiditis in an Adolescent Boy and Review of the Literature.

Introduction: Hypothyroidism-induced rhabdomyolysis without precipitating factors is extremely rare, particularly in pediatric patients. We describe a previously healthy adolescent boy who came to our institution with vague symptoms and was found to have rhabdomyolysis secondary to hypothyroidism due to Hashimoto thyroiditis. We also summarize previously published cases in children and adolescents.

Recurrent hypokalemic paralysis in hypothyroidism.

Hypothyroidism, a commonly encountered thyroid disorder, usually manifests with readily recognizable typical features. However, an unusual presentation of a classic thyroid disorder may hinder accurate diagnosis in certain instances. One such rare initial presentation of hypothyroidism is recurrent hypokalemic paralysis, and existing reports in the literature are sparse.

Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult.

Background: Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder affecting fatty acid oxidation. Incidence at birth is estimated at 1:250 000, but type III presents in adults. It is characterized by nonspecific symptoms but if undiagnosed may cause ketoacidosis and rhabdomyolysis.

Hypothalamic hypernatremic myopathy: A single-center case series.

Introduction/aims: Hypernatremia myopathy is a rare disease often unrecognized by clinicians. This study aimed to present a case series of hypernatremic myopathy with an emphasis on profiling its clinical characteristics and exploring its pathogenesis.

Methods: We reviewed seven patients with hypernatremic myopathy and reported their demographic data, etiology, clinical manifestations, and laboratory and electrophysiological characteristics.

Case report: Pembrolizumab plus Axitinib related hypothyroid myopathy in two kidney cancer patients.

The first-line therapy in advanced kidney cancer has changed in recent years due to the introduction of combinations of tyrosine kinase inhibitors (TKIs) of vascular endothelial growth factor receptors (VEGFR) and immune checkpoint inhibitors (ICIs). Although immune-related adverse events are well-known, in the case of combination treatments, the determination of which drug is related to an adverse event may be challenging. We reported two cases of patients who developed muscle enzyme elevation in association with hypothyroidism during therapy with pembrolizumab plus axitinib for metastatic kidney cancer.

Recurrent Nausea and Vomiting with Weight Loss Associated with Hypothyroidism: Fact or Myth.

Background: Hypothyroidism is a commonly encountered endocrine disorder presenting in various clinical settings. It usually presents with classic manifestations, which are readily recognized and, therefore, easy to diagnose. However, occasionally, patients present with unusual symptoms, which becomes a challenge to diagnose.

Anti-programmed death-1 inhibitor nivolumab-induced immune-related adverse events: hepatitis, renal insufficiency, myositis, vitiligo, and hypothyroidism: a case-based review.

Nivolumab (NIVO) is a monoclonal antibody used to treat renal cell cancer. It is an anti-programmed death-1 (anti-PD-1) inhibitor, enhancing the tumor-targeted immune response of T lymphocytes, resulting in immune-mediated adverse events (AEs). We present five immunological AEs in a single patient treated with NIVO.

Case report: Rhabdomyolysis and kidney injury in a statin-treated hypothyroid patient-kill two birds with one stone.

Statin treatment for hypercholesterolemia may cause reversible rhabdomyolysis and acute kidney injury in susceptible patients. However, persistent rhabdomyolysis and acute kidney injury following discontinuation of statins require careful evaluation of the underlying causes to avoid missing a curable disease. We describe a 50-year-old woman with hypercholesterolemia [total cholesterol 345 mg/dl, low-density lipoprotein cholesterol (LDL-C) 266 mg/dL] on atorvastatin therapy (40 mg daily) for 1 month that presented with myalgia and muscle weakness.

Rhabdomyolysis Caused by Hypothyroidism: Research Progress.

Rhabdomyolysis (RM) refers to the clinical syndrome caused by the release of intracellular substances into the extracellular fluid and blood circulation after rhabdomyocyte destruction due to various etiologies. In severe cases, RM can lead to life-threatening conditions such as acute kidney injury. Hypothyroidism is a rare cause of RM that can lead to missed diagnosis or misdiagnosis, and the condition worsens in the absence of timely and effective treatment.

Graves' hyperthyroidism induced pancytopenia, epilepsia and muscle weakness: A case report.

Rationale: Pancytopenia and epilepsia are rare complications of Graves' disease (GD). Muscle weakness is a physical sign of GD. It is extremely rare for GD patients to present 3 symptoms at the same time.

Clinical analysis of the serum muscle enzyme spectrum of patients with newly diagnosed Sheehan's syndrome.

We investigated the factors associated with serum muscle enzyme elevation in patients with Sheehan's syndrome. A total of 48 patients who were newly diagnosed with Sheehan's syndrome were included and divided into 3 groups: Group 1, creatine kinase (CK) ≥ 1000 U/L; Group 2, 140 < CK < 1000 U/L; and Group 3, CK ≤ 140 U/L. Differences in serum muscle enzymes, serum electrolytes, blood glucose and hormones were compared among the 3 groups.

Previous therapy with immune checkpoint inhibitor as a cause of hypothyroidism, myositis, and renal insufficiency in a candidate for allogeneic hematopoietic transplantation.

Treatment of neoplastic diseases resistant to conventional chemotherapies is still an open challenge. The increasing development of chemical molecules or monoclonal antibodies able to recognize precise molecular targets of cancer disease has played an increasingly important role in treating patients suffering from solid or hematological tumors, and constitutes the basis of so-called 'targeted therapy'. Immunotherapy has become a cornerstone for treating refractory or relapsed cancer disease patients after standard chemotherapies.

Sonographic evaluation of subclinical entheseal involvement in patients with hypoparathyroidism: a case control study.

Purpose: Hypoparathyroidism is a disease characterized by low serum calcium, increased serum phosphorus and low PTH levels. Although patients are treated with active vitamin D and calcium, a proper serum calcium phosphorus balance cannot always be achieved. Ectopic calcifications that develop in organs during treatment are the most common complications.

Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.

Background: Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA-binding motif-containing 1 gene (AHDC1), encoding a protein with a crucial role in transcription and epigenetic regulation, axonogenesis, brain function, and neurodevelopment. AHDC1 variants possibly act through a dominant-negative mechanism and may interfere with DNA repair processes, leading to genome instability and impaired DNA translesion repair. Variants affecting residues closer to the N-terminal are thought to determine a milder phenotype with better cognitive performances.

A Successful Case of Hepatocellular Carcinoma Treated with Atezolizumab Plus Bevacizumab with Multisystem Immune-related Adverse Events.

A 63-year-old man with hepatitis C was treated with atezolizumab plus bevacizumab for unresectable diffuse hepatocellular carcinoma (HCC). After four cycles of atezolizumab plus bevacizumab, the diffuse HCC markedly shrank; however, he complained of general fatigue, loss of appetite, and slight loss of muscle strength in the lower legs. He was diagnosed with isolated adrenocorticotropic hormone deficiency (IAD), hypothyroidism, and myopathy, suggesting multisystem immune-related adverse events (irAEs).