OpenMed/multicare-articles huggingface dataset:
Fluoroquinolone resistance linked to GyrA, GyrB, and ParC mutations in Salmonella enterica typhimurium isolates in humans
Authors: Isabelle Casin, Jacques Breuil, Jean Pierre Darchis, Claire Guelpa, Ekkehard Collatz
Journal: Emerg Infect Dis (2003)
MeSH terms: Anti-Infective Agents / therapeutic use, Ciprofloxacin / therapeutic use, DNA Gyrase / genetics, Drug Resistance, Multiple, Bacterial / genetics, Fluoroquinolones / therapeutic use, Salmonella Infections / drug therapy, Salmonella typhimurium / genetics, Case Reports, Research Support, Non-U.S. Gov't, Aged, DNA Gyrase / drug effects, Humans, Infant, Male, Microbial Sensitivity Tests, Salmonella typhimurium / drug effects, Anti-Infective Agents, Fluoroquinolones, Ciprofloxacin, DNA Gyrase

We report two cases of infection with clonally unrelated, high-level ciprofloxacin-resistant, b-lactamase-producing strains of Salmonella enterica Typhimurium. Resistance was caused by four topoisomerase mutations, in GyrA, GyrB, and ParC and increased drug efflux. Ciprofloxacin treatment failed in one case. In the second case, reduced susceptibility to third-generation cephalosporins occurred after initial treatment with these drugs and may explain the treatment failure with ceftriaxone.
Case report: HLA-haploidentical HSCT rescued with donor lymphocytes infusions in a patient with X-linked chronic granulomatous disease
Authors: Julia Scheiermann, Annette Künkele, Arend von Stackelberg, Angelika Eggert, Peter Lang, Felix Zirngibl, Luise Martin, Johannes Hubertus Schulte, Horst von Bernuth
Journal: Front Immunol (2023)
Keywords: hla-haploidentical hematopoietic stem cell transplantation, tcr alpha/beta+/cd19+ depleted peripheral blood hsct, chronic granulomatous disease, donor lymphocyte infusion (dli), graft verses host disease
MeSH terms: Granulomatous Disease, Chronic, Hematopoietic Stem Cell Transplantation, Case Reports, Research Support, Non-U.S. Gov't, HLA Antigens, Histocompatibility Antigens, Histocompatibility Antigens Class II, Humans, Infant, Lymphocytes, Male, Histocompatibility Antigens, Histocompatibility Antigens Class II, HLA Antigens

Chronic granulomatous disease is an inborn error of immunity due to disrupted function of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. This results in impaired respiratory burst of phagocytes and insufficient killing of bacteria and fungi. Patients with chronic granulomatous disease are at increased risk for infections, autoinflammation and autoimmunity. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only widely available curative therapy. While HSCT from human leukocyte antigen (HLA) matched siblings or unrelated donors are standard of care, transplantation from HLA-haploidentical donors or gene therapy are considered alternative options. We describe a 14-month-old male with X-linked chronic granulomatous disease who underwent a paternal HLA-haploidentical HSCT using T-cell receptor (TCR) alpha/beta+/CD19+ depleted peripheral blood stem cells followed by mycophenolate graft versus host disease prophylaxis. Decreasing donor fraction of CD3+ T cells was overcome by repeated infusions of donor lymphocytes from the paternal HLA-haploidentical donor. The patient achieved normalized respiratory burst and full donor chimerism. He remained disease-free off any antibiotic prophylaxis for more than three years after HLA-haploidentical HSCT. In patients with x-linked chronic granulomatous disease without a matched donor paternal HLA-haploidentical HSCT is a treatment option worth to consider. Administration of donor lymphocytes can prevent imminent graft failure.
A man with a worrying potassium deficiency
Authors: A Tabasum, C Shute, D Datta, L George
Journal: Endocrinol Diabetes Metab Case Rep (2014)

Hypokalaemia may present as muscle cramps and Cardiac arrhythmias. This is a condition commonly encountered by endocrinologists and general physicians alike. Herein, we report the case of a 43-year-old gentleman admitted with hypokalaemia, who following subsequent investigations was found to have Gitelman's syndrome (GS). This rare, inherited, autosomal recessive renal tubular disorder is associated with genetic mutations in the thiazide-sensitive sodium chloride co-transporter and magnesium channels in the distal convoluted tubule. Patients with GS typically presents at an older age, and a spectrum of clinical presentations exists, from being asymptomatic to predominant muscular symptoms. Clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia. Treatment of GS consists of long-term potassium and magnesium salt replacement. In general, the long-term prognosis in terms of preserved renal function and life expectancy is excellent. Herein, we discuss the biochemical imbalance in the aetiology of GS, and the case report highlights the need for further investigations in patients with recurrent hypokalaemic episodes.
Learning points:
Recurrent hypokalaemia with no obvious cause warrants investigation for hereditary renal tubulopathies.GS is the most common inherited renal tubulopathy with a prevalence of 25 per million people.GS typically presents at an older age and clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia.Confirmation of diagnosis is by molecular analysis for mutation in the SLC12A3 gene.
Isolated displaced fracture of the acromion: a rare case report and the consequence of treatment by open reduction and pin fixation
Authors: Seyed Abdolhossein Mehdi Nasab
Journal: Arch Trauma Res (2013)
Keywords: acromion, scapula, shoulder pain
MeSH terms: Case Reports

Displaced fracture of the acromion without associated shoulder injury occurs rarely. A 31-year-old gentleman presented with an isolated acromion fracture resulting from a direct trauma to the top of his left shoulder. Open reduction and internal fixation using multiple pins was performed and the fracture was closed without complications. The patient achieved excellent shoulder function and ranked as satisfied in the constant shoulder score almost 14 months following the surgery. Fixation with pins can provide adequate stability in this rare type of shoulder fracture.
Low HbA1c With Normal Hemoglobin in a Diabetes Patient Caused by PIEZO1 Gene Variant: A Case Report
Authors: An Song, Lin Lu, Yuxiu Li, Mei Lin, Xingxing Yuan, Xinqi Cheng, Weibo Xia, Ou Wang, Xiaoping Xing
Journal: Front Endocrinol (Lausanne) (2020)
Keywords: piezo1 gene, diabetes, glycated albumin, glycated hemoglobin, hemolytic anemia
MeSH terms: Biomarkers / analysis, Blood Glucose / analysis, Diabetes Mellitus, Type 2 / pathology, Glycated Hemoglobin / analysis, Ion Channels / genetics, Polymorphism, Single Nucleotide, Case Reports, Research Support, Non-U.S. Gov't, Diabetes Mellitus, Type 2 / blood, Diabetes Mellitus, Type 2 / drug therapy, Diabetes Mellitus, Type 2 / genetics, Female, Glucose Tolerance Test, Humans, Middle Aged, Prognosis, Biomarkers, Blood Glucose, Glycated Hemoglobin A, Ion Channels, PIEZO1 protein, human, hemoglobin A1c protein, human

Background: Diabetes is a global disease with rapidly increasing prevalence in the world. Glycated hemoglobin (HbA1c) as an important indicator of diabetes could reflect the average serum glucose level over 120 days. However, when using HbA1c to diagnose diabetes, it is important to consider other factors that may impact HbA1c level including age, race/ethnicity, detection method, and co-morbidities. Here we report a case of diabetes with normal hemoglobin but reduced HbA1c. Case report: A 57-year-old female patient was diagnosed with diabetes by oral glucose tolerance test results. However, the HbA1c level was repeatedly decreased, glycated albumin level was high, with normal levels of hemoglobin and albumin, and a slightly elevated level of bilirubin. Moreover, life span of red blood cells was significantly shortened. Further examination of whole exome sequencing of the patient and her daughter showed heterozygous variant in PIEZO1 gene (c.6017T > A) in both, which is associated with dehydration hereditary stomatocytosis (DHS). After this diagnosis, we changed nateglinide to sitagliptin to reduce the burden of the pancreas islet function. Conclusion: In case of abnormally low HbA1c, we recommend that GA and reticulocyte should be measured simultaneously. Moreover, the methodology for hemoglobin measurement and the diseases that could cause abnormal quantity and quality of red blood cells and hemoglobin be considered.
Case Report: Recurrent hypokalemic periodic paralysis associated with distal renal tubular acidosis (type 1) and hypothyroidism secondary to Hashimoto's thyroiditis
Authors: E Dante Meregildo-Rodríguez, Virgilio E Failoc-Rojas
Journal: F1000Res (2018)
Keywords: hypokalemic periodic paralysis, distal renal tubular acidosis (type 1), hypothyroidism, hashimoto disease
MeSH terms: Acidosis, Renal Tubular / diagnosis, Hashimoto Disease / diagnosis, Hypokalemic Periodic Paralysis / diagnosis, Hypothyroidism / diagnosis, Case Reports, Acidosis, Renal Tubular / complications, Adolescent, Hashimoto Disease / complications, Humans, Hypokalemic Periodic Paralysis / complications, Hypothyroidism / etiology, Male

Background: Hypokalemic periodic paralysis (HypoKPP) is characterized by transient episodes of flaccid muscle weakness. We describe the case of a teenaged boy with HypoKPP and hyperthyroidism due to Hashimoto's thyroiditis with initial manifestation of renal tubular acidosis. This combination is rare and little described previously in men. Case presentation: A 17-year-old boy was admitted after three days of muscular weakness and paresthesia in the lower limbs with an ascending evolution, leading to prostration. Decreased strength was found in the lower limbs without a defined sensory level, reduced patellar and ankle reflexes. Positive antithyroid antibodies were found. He received hydration treatment, IV potassium and levothyroxine, with which there was a clinical improvement. Other examinations led to the diagnosis of type 1 renal tubular acidosis. Conclusion: HypoKPP is a rare disorder characterized by acute episodes of muscle weakness. Type 1 renal tubular acidosis can occur as a consequence of thyroiditis, which is explained by the loss of potassium. This combination is unusually rare, and has not been described before in men. The etiopathogenesis of the disease as well as a dynamic explanation of what happened with the patient are discussed in this report.
Possible mechanism and Atorvastatin-based treatment in cupping therapy-related subdural hematoma: A case report and literature review
Authors: Tangtang Xiang, Xinjie Zhang, Yingsheng Wei, Dongyi Feng, Zhitao Gong, Xuanhui Liu, Jiangyuan Yuan, Weiwei Jiang, Meng Nie, Yibing Fan, Yupeng Chen, Jiancheng Feng, Shiying Dong, Chuang Gao, Jinhao Huang, Rongcai Jiang
Journal: Front Neurol (2022)
Keywords: atorvastatin, intracranial pressure reduction, cupping therapy, dexamethasone, subdural hematoma (sdh)
MeSH terms: Case Reports

Subdural hematoma (SDH) is one of the most lethal types of traumatic brain injury. SDH caused by Intracranial Pressure Reduction (ICPR) is rare, and the mechanism remains unclear. Here, we report three cases of SDH that occurred after substandard cupping therapy and are conjected to be associated with ICPR. All of them had undergone cupping treatments. On the last cupping procedure, they experienced a severe headache after the cup placed on the occipital-neck junction (ONJ) was suddenly removed and were diagnosed with SDH the next day. In standard cupping therapy, the cups are not usually placed on the ONJ. We speculate that removing these cups on the soft tissue over the cisterna magna repeatedly created localized negative pressure, caused temporary but repeated ICPR, and eventually led to SDH development. The Monro-Kellie Doctrine can explain the mechanism behind this - it states that the intracranial pressure is regulated by a fixed system, with any change in one component causing a compensatory change in the other. The repeated ICPR promoted brain displacement, tearing of the bridging veins, and development of SDH. The literature was reviewed to illustrate the common etiologies and therapies of secondary ICPR-associated SDH. Despite the popularity of cupping therapy, its side effects are rarely mentioned. This case is reported to remind professional technicians to fully assess a patient's condition before cupping therapy and ensure that the cups are not placed at the ONJ.
A Giant Parathyroid Tumor during Pregnancy: Adenoma versus Carcinoma
Authors: Rusella Mirza, Eric X Wei
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

Primary hyperparathyroidism (PHP) is one of the most common endocrine diseases. However, it is rare during pregnancy. 85% cases of the PHP are due to parathyroid adenoma (PA) and less than 1% because of parathyroid carcinoma (PC). Here we report a case of giant parathyroid adenoma (GPA) in a patient with first trimester pregnancy. Her calcium and parathyroid hormone (PTH) levels were very high. The tumor measured 5 cm in greatest dimension, weighed 37 grams, and was adherent to the surrounding tissues. Grossly, the tumor was encapsulated and composed of solid and cystic components. Cut surface was reddish brown and soft. Microscopically, the tumor had a thick irregular capsule with entrapped parathyroid cells and extensive foreign body type reactions. The tumor was composed of multiple cell types with areas of pleomorphism. The mitotic index was nonetheless low. Even though the tumor was large and adherent with the surrounding strap muscles, the gross appearance and the histological morphology favored benign parathyroid adenoma. In this paper, we have discussed some important differential aspects of GPA, PA, and PC.
Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome
Authors: Mojiang Li, Yingshu Li, Huixing Liu, Haiyan Zhou, Wanqin Xie, Qinghua Peng
Journal: Front Genet (2022)
Keywords: adamtsl2, weill-marchesani syndrome, acromelic dysplasias, geleophysic dysplasia, high myopia, lens subluxation, microspherophakia, missense mutation
MeSH terms: Case Reports

Background: Geleophysic dysplasia and Weill-Marchesani syndrome from the acromelic dysplasias group of genetic skeletal disorders share remarkable clinical and genetic overlap. Methods: Ophthalmological, physical, radiological examinations were conducted with a female patient in her early 30 s. Whole exome sequencing followed by Sanger sequencing validation was performed to identify the genetic cause. Results: The patient, born to consanguineous Chinese parents, presented with microspherophakia, lens subluxation, high myopia, short statue, small hands and feet, stiff joints, and thickened skin. A diagnosis of Weill-Marchesani syndrome was initially made for her. However, genetic testing reveals that the patient is homozygous for the c.1966G>A (p.Gly656Ser) variant in ADAMTSL2, and that the patient's healthy mother and daughter are heterozygous for the variant. As mutations in ADAMTSL2 are known to cause autosomal recessive geleophysic dysplasia, the patient is re-diagnosed with geleophysic dysplasia in terms of her genotype and phenotype. Conclusion: The present study describes the clinical phenotype of the homozygous ADAMTSL2 p. Gly656Ser variant, which increases our understanding of the genotype-phenotype correlation in acromelic dysplasias.
Pectoral Dimorphism Is a Pervasive Feature of Skate Diversity and Offers Insight into their Evolution
Authors: C M Martinez, B H Kao, J S Sparks, P C Wainwright
Journal: Integr Org Biol (2019)

Mature skates (Batoidea: Rajoidei) display a unique form of sexual dimorphism in which males develop a concave anterior pectoral fin, giving them a bell-shaped appearance. Recent work has linked the male-specific transformation to differential skeletal development that is coincident with the rapid elongation of claspers, cartilage-supported intromittent organs. Still, little is known about the prevalence of pectoral dimorphism across skates or of interspecific variation in its expression. Here, we use various morphological approaches to broadly explore pectoral dimorphism in skates, with the goal of understanding its significance in their evolutionary history. We find that pectoral fin sexual dimorphism exists across skate diversity, positively identifying its presence in at least 131 species spanning 33 genera, approximately 40% of valid species. Further, we show that the nature of male-female shape change is largely consistent across species, but that it differs in its magnitude at a biologically meaningful scale. Finally, we use the pygmy skate Fenestraja plutonia as a case study to illustrate ontogenetic patterns in the development of pectoral fin dimorphism, additionally identifying sex-based differences in the pelvic girdle and jaw. Our work suggests that the diversity of pectoral dimorphism in skates is linked to comparative growth and maturation, and potentially to processes underlying reproductive and life history diversification within the group.
Combined hemophagocytic syndrome and thrombotic microangiopathy due to mixed infection with influenza virus and pneumococcal pneumonia
Authors: Takashi Ishiguro, Ayako Kojima, Taisuke Shimizu, Norikatsu Mita, Seiichiro Kuroiwa, Noboru Takayanagi
Journal: Clin Case Rep (2018)
Keywords: streptococcus pneumoniae, atypical hemolytic‐uremic syndrome, hemophagocytic syndrome, hyperinflammatory lymphohistiocytosis, influenza, thrombotic microangiopathy
MeSH terms: Case Reports

Development of hemophagocytic syndrome and thrombotic microangiopathy due to community-acquired pneumonia is rare, but delayed management of these complications can lead to a poor prognosis. Infection by both Streptococcus pneumoniae and influenza virus can cause these complications; thus, physicians should pay attention to them when treating influenza-associated pneumococcal pneumonia.
A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)
Authors: Jun-Kun Chen, Ping Liu, Li-Qin Hu, Qing Xie, Quan-Fei Huang, Hai-Liang Liu
Journal: Mol Cytogenet (2018)
Keywords: sub-chromosomal abnormalities, the non-invasive prenatal testing (nipt), unbalanced translocation, x-chromosome inactivation
MeSH terms: Case Reports

Background:
Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA) and has been widely applied, with highly accurate results for detecting foetal trisomies 21, 18 and 13. Recently, increasing attention has been paid to the clinical application of the non-invasive detection of foetal sub-chromosomal duplications and deletions beyond common aneuploidies.
Case presentation:
A 32-year-old healthy pregnant woman was referred to the Medical Genetic Centre of Ganzhou Maternal and Child Health Care Hospital. As routine practice, ultrasound examination at a gestational age of 16 weeks showed that the foetus is normal. To avoid invasive prenatal diagnosis procedures, an NIPT was offered to further screen for common foetal chromosomal abnormalities. The result showed that there was an approximately 50.94 Mb duplication in p11.32-q21.2 of chromosome 18 and an approximately 58.46 Mb deletion in p22.33-p11.1 of chromosome X. In addition, the chromosome karyotypes of the parents and foetus were also analysed. Chromosome karyotype analysis results showed that foetal karyotype was 46,X,der(18), the maternal karyotype was 46,XX,t(X;18)(q13;q21.3), and the paternal karyotype revealed no obvious abnormality.
Conclusion:
In this case, we successfully detected a healthy pregnant woman with balanced translocation X;18(q13;q21.3) and described the foetal karyotype as 46,X,der(18)t(X;18)(q11;q21.1)mat. Our report illustrated these cases which present complex X;autosome balance translocation and X;autosome unbalance translocation which may contribute to severe clinical phenotypes. In addition, our report also proved that the interruption of genes in the Xq critical region is not only reason of primary infertility. Finally, we prompted that NIPT might play a role in the first trimester screening of sub-chromosomal rearrangement.
Erroneously Suspected Ovarian Cancer in a 38-Year-Old Woman with Pelvic Inflammatory Disease and Chlamydia
Authors: Romana Brun, Juliane Hutmacher, Daniel Fink, Patrick Imesch
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Chlamydia trachomatis is the most common bacterial cause of sexually transmitted disease and can cause pelvic inflammatory disease (PID), leading to severe outcomes such as ectopic pregnancy, infertility, or pelvic pain. We report a case of a 38-year-old patient with abdominal pain and dyspareunia. Clinical examination revealed diffuse abdominal tenderness. Vaginal and abdominal sonography showed substantial ascites and CA-125 level was elevated. Therefore, the attendant physician performed an abdominal CT scan for further diagnosis. Radiographically diffuse peritoneal enhancement, consistent with peritoneal carcinomatosis, 4-quadrant ascites, and slightly enlarged ovaries with solid and cystic structures were diagnosed, leading to the suspicion of ovarian cancer. In addition, the results of the cervical smear PCR for chlamydia were positive. Due to the positive chlamydia result, the suspicious CT scan, and the young age, we decided to perform a diagnostic laparoscopy as a first step. Intraoperatively, the ovaries were of normal aspect without any cancerous lesions. However, the ascites and the yellow-reddish jelly-like deposits were consistent with acute PID. Thus, chlamydia infection may simulate the presentation of ovarian cancer. Therefore, especially in young patients, we recommend careful scrutiny of every diagnosis of ovarian cancer even if its presentation seems to be typical.