OpenMed/multicare-articles huggingface dataset:
Endosonography-guided pancreatic duct drainage for chronic pancreatitis: a case report and review
Authors: Kei Ito, Naotaka Fujita, Yutaka Noda, Go Kobayashi, Takashi Obana, Jun Horaguchi, Shinsuke Koshita, Yoshihide Kanno
Journal: Diagn Ther Endosc (2010)
MeSH terms: Case Reports

A 50-year-old man was admitted to our department, complaining of epigastric pain and high fever. CT revealed a pseudocyst at the pancreatic head with upstream dilatation of the pancreatic duct (PD) and fluid collection surrounding the pancreas. Endosonography-guided PD drainage (ESPD) was performed because of unsuccessful ERCP. With a curved linear array echoendoscope, a 7.2 F catheter was placed in the PD. Laboratory data showed improvement in a few days and revealed disappearance of the fluid collection. Ten days after ESPD, a 7 F stent was placed in the PD via the puncture tract across the papilla of Vater followed by transpapillary replacement with a 10 F stent. CT showed a reduction in diameter of the PD and disappearance of the pseudocyst. ESPD is a feasible and useful procedure in selected patients with chronic pancreatitis showing stenosis of the main PD when transpapillary approach is impossible.
Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome
Authors: Mireia Boluda-Navarro, Mariam Ibáñez, Alessandro Liquori, Clara Franco-Jarava, Mónica Martínez-Gallo, Héctor Rodríguez-Vega, Jaijo Teresa, Carmen Carreras, Esperanza Such, Ángel Zúñiga, Roger Colobran, José Vicente Cervera
Journal: Front Immunol (2021)
Keywords: chs, chédiak-higashi syndrome, lyst, snp-array, hemophagocytic lymphohistiocytosis, loss of heterozygosity, primary immunodeficiency, uniparental disomy
MeSH terms: Chediak-Higashi Syndrome / genetics, Mutation, Uniparental Disomy, Vesicular Transport Proteins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Chediak-Higashi Syndrome / diagnosis, Chediak-Higashi Syndrome / therapy, Child, Preschool, Female, Genetic Predisposition to Disease, Heredity, Homozygote, Humans, Loss of Heterozygosity, Molecular Diagnostic Techniques, Mothers, Pedigree, Phenotype, Severity of Illness Index, LYST protein, human, Vesicular Transport Proteins

Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecular mechanism of inheritance, respectively. Partial-UPiD leads to a copy neutral loss of heterozygosity (CN-LOH) of the telomeric region of chromosome 1 (1q41q44), unmasking the potential effect of the mutation detected. The mutation (c.8380dupT) is an insertion located in exon 32 of the LYST gene resulting in a premature stop codon and leading to the loss of all the conserved domains at the C-terminal of the LYST protein. This would account for the severe phenotype observed. We also reviewed the only two previously reported cases of CHS as a result of a uniparental disomy. In this study, we show that the combination of different strategies, including the use of SNP-arrays, is pivotal to fine-tune the diagnosis of rare AR disorders, such as CHS. Moreover, this case highlights the relevance of uniparental disomy as a potential mechanism of CHS expression in non-consanguineous families.
Thyroiditis after mRNA Vaccination for COVID-19
Authors: Arunava Saha, Sanjita Chittimoju, Nitin Trivedi
Journal: Case Rep Endocrinol (2022)
MeSH terms: Case Reports

Background:
SARS-CoV-2 has been known to cause multisystemic involvement, gaining entry through ACE-2 and TMPRSS2 receptors. COVID-19 vaccine-associated thyroiditis cases are now being reported. Case Report. Case 1. A 36-year-old woman with a history of right hemithyroidectomy for a benign thyroid nodule, on a stable dose of levothyroxine with euthyroid labs, presented with progressively worsening left neck pain, episodic palpitations, and heat intolerance after the second dose of mRNA1273 (Moderna) vaccine. Examination revealed an enlarged and tender left lobe of the thyroid with suppressed TSH but normal free T4 and ESR, signifying subacute thyroiditis. She was managed conservatively without corticosteroids or beta-blockers, and her symptoms resolved. A follow-up revealed increasing TSH, and levothyroxine was restarted. Case 2. A 33-year-old man with a history of anxiety disorder on Sertraline, presented with a two-week history of palpitations, heat intolerance, and 10-pound weight loss after the second dose of BNT162b2 (Pfizer-BioNTech) vaccine. Examination revealed a normal thyroid gland with no tenderness with elevated thyroid peroxidase and thyroglobulin antibodies. Ultrasound showed a diffusely heterogeneous thyroid with increased vascularity, suggesting silent thyroiditis. Follow-up revealed a hypothyroid phase with high TSH for which levothyroxine supplementation was started. Discussion. COVID-19 vaccine-associated subacute and silent thyroiditis have occurred following all three kinds of available vaccines, characterized by an initial thyrotoxic phase, followed by a hypothyroid phase and a recovery phase. Hypotheses include an immune response triggering thyroid inflammation or cross-reactivity with viral proteins.
Conclusions:
COVID-19 vaccine-associated thyroiditis is rare, but long-term monitoring of these patients is essential to ensure appropriate diagnosis and management of the potential hypothyroid phase.