OpenMed/multicare-articles huggingface dataset:
Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads
Authors: Yiyang Ma, Hao Peng, Fuchou Hsiang, Haoyu Fang, Dajiang Du, Chenyi Jiang, Yehui Wang, Chun Chen, Changqing Zhang, Yun Gao
Journal: Front Pediatr (2022)
Keywords: galns, morquio a syndrome, wes, compound heterozygous variants, femoral head, micro-ct
MeSH terms: Case Reports

Introduction:
Mucopolysaccharidosis Type IVA (MPS IVA) or Morquio A Syndrome, is a rare metabolic disorder caused by compromised galactosamine-6 sulfatase (GALNS) encoded by GALNS gene (NM_000512.5), leading to keratin sulfate (KS), and chondroitin-6-sulfate accumulation in various organs. We present a 17-year-old woman with progressive bilateral hip pain and radiographic evidence of spondyloepiphyseal dysplasia.
Methods:
Diagnosis of MPS IVA was made based on whole-exome sequencing (WES) of blood samples collected from the patient and family members, high urinary glycosaminoglycan excretion, supportive clinical manifestations, radiographic examinations, including whole-body X-rays, cervical MRI, and pelvic CT. The patient underwent bilateral total hip arthroplasties sequentially, at a 1-month interval. Femoral heads were preserved for the micro-CT (μCT) analysis and the osteochondral histology examination.
Results:
The patient presented with multiple skeletal deformities, including vertebras and long bone deformities. WES disclosed compound heterozygous variants at exon 11 (c.1156C>T) and exon 12 (c.1288C>G) of the GALNS (NM_000512.5). The μCT analysis revealed significant bone quantity loss and microarchitectural change in both weight-bearing area (WBA) and non-weight-bearing area (NWBA) of the femoral heads, while histological analysis showed structural abnormity of articular cartilage in the WBA of the femoral heads.
Conclusion:
We have found compound heterozygous variants of GALNS. This is also the first study to report the microarchitectural and histological changes of both subchondral bone and articular cartilage of the femoral head in a patient with MPS IVA.
Expedient treatment of a collodion baby
Authors: Michael Chung, Jaime Pittenger, Stuart Tobin, Andrew Chung, Nirmala Desai
Journal: Case Rep Dermatol Med (2011)
MeSH terms: Case Reports

Only ~270 cases of collodion babies have been reported in the literature since 1892. As the name suggests, the term "collodion baby" refers to a phenotype that can be characterized by a yellow, shiny, tight parchment-like membrane stretched over the skin. Although the collodion membrane is only an evanescent condition of the newborn, neonatal complications can occur in 45% of all collodion babies, leading to a mortality rate of ~11% in the first few weeks of life. Most children born as collodion babies will spontaneously desquamate within 2 weeks, but may be as long as 3 months. Eventually, these children develop signs of one of several types of ichthyosis, which gives the skin the appearance of "fish scales." We report a unique case of a Caucasian male that was born as a Collodion baby at the University of Kentucky Children's Hospital in Lexington, Kentucky. Although the impairment of the skin barrier function put the patient at risk for a number of complications, he improved significantly after being treated with emollients and antibiotics. In contrast to previous findings, we found that skin emollients were beneficial and did not increase the risk of infection.
Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant
Authors: Charlène Lhuissier, Bart E Wagner, Amy Vincent, Gaëtan Garraux, Olivier Hougrand, Rudy Van Coster, Valerie Benoit, Deniz Karadurmus, Guy Lenaers, Naïg Gueguen, Arnaud Chevrollier, Isabelle Maystadt
Journal: Front Neurol (2022)
Keywords: dnm1l, drp1, empf1, encephalopathy, mitochondrial fission
MeSH terms: Case Reports

Mutations in DNM1L (DRP1), which encode a key player of mitochondrial and peroxisomal fission, have been reported in patients with the variable phenotypic spectrum, ranging from non-syndromic optic atrophy to lethal infantile encephalopathy. Here, we report a case of an adult female patient presenting with a complex neurological phenotype that associates axonal sensory neuropathy, spasticity, optic atrophy, dysarthria, dysphasia, dystonia, and ataxia, worsening with aging. Whole-exome sequencing revealed a heterozygous de novo variant in the GTPase domain of DNM1L [NM_001278464.1: c.176C>A p.(Thr59Asn)] making her the oldest patient suffering from encephalopathy due to defective mitochondrial and peroxisomal fission-1. In silico analysis suggested a protein destabilization effect of the variant Thr59Asn. Unexpectedly, Western blotting disclosed profound decrease of DNM1L expression, probably related to the degradation of DNM1L complexes. A detailed description of mitochondrial and peroxisomal anomalies in transmission electron and 3D fluorescence microscopy studies confirmed the exceptional phenotype of this patient.
Assessment of the soil organic carbon sink in a project for the conversion of farmland to forestland: a case study in Zichang county, Shaanxi, China
Authors: Lan Mu, Yinli Liang, Ruilian Han
Journal: PLoS One (2014)
MeSH terms: Agriculture, Carbon / analysis, Carbon Sequestration, Forestry, Forests, Organic Chemicals / analysis, Organic Chemicals / chemistry, Soil / chemistry, Research Support, Non-U.S. Gov't, Carbon / chemistry, China, Time Factors, Organic Chemicals, Soil, Carbon

The conversion of farmland to forestland not only changes the ecological environment but also enriches the soil with organic matter and affects the global carbon cycle. This paper reviews the influence of land use changes on the soil organic carbon sink to determine whether the Chinese "Grain-for-Green" (conversion of farmland to forestland) project increased the rate of SOC content during its implementation between 1999 and 2010 in the hilly and gully areas of the Loess Plateau in north-central China. The carbon sink was quantified, and the effects of the main species were assessed. The carbon sink increased from 2.26×106 kg in 1999 to 8.32×106 kg in 2010 with the sustainable growth of the converted areas. The black locust (Robinia pseudoacacia L.) and alfalfa (Medicago sativa L.) soil increased SOC content in the top soil (0-100 cm) in the initial 7-yr period, while the sequestration occurred later (>7 yr) in the 100-120 cm layer after the "Grain-for-Green" project was implemented. The carbon sink function measured for the afforested land provides evidence that the Grain-for-Green project has successfully excavated the carbon sink potential of the Shaanxi province and served as an important milestone for establishing an effective organic carbon management program.
Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency
Authors: Anna-Kaisa Niemi, Candida Brown, Tereza Moore, Gregory M Enns, Tina M Cowan
Journal: Mol Genet Metab Rep (2014)
Keywords: gsh, glutathione, mitochondria, oxidative stress, ssadh
MeSH terms: Case Reports

The pathophysiology of succinic semialdehyde dehydrogenase (SSADH) deficiency is not completely understood. Oxidative stress, mitochondrial pathology, and low reduced glutathione levels have been demonstrated in mice, but no studies have been reported in humans. We report on a patient with SSADH deficiency in whom we found low levels of blood reduced glutathione (GSH), and elevations of dicarboxylic acids in urine, suggestive of possible redox imbalance and/or mitochondrial dysfunction. Thus, targeting the oxidative stress axis may be a potential therapeutic approach if our findings are confirmed in other patients.
Case report: Changes in the levels of stress hormones during Takotsubo syndrome
Authors: Pablo Ruiz, Paul Gabarre, Camille Chenevier-Gobeaux, Hélène François, Mathieu Kerneis, John A Cidlowski, Robert H Oakley, Guillaume Lefèvre, Mathieu Boissan
Journal: Front Cardiovasc Med (2022)
Keywords: takotsubo syndrome, cardiac biomarkers, case report, copeptin, cortisol
MeSH terms: Case Reports

Background:
Takotsubo syndrome is an acute cardiac condition usually involving abnormal regional left ventricular wall motion and impaired left ventricular contractility. It is due mainly to hyper-stimulation of the sympathetic nerve system, inducing an excess of catecholamines, usually triggered by intense psychological or physiological stress. The relationship between Takotsubo syndrome and the circulating stress hormones cortisol and copeptin (a surrogate marker of arginine vasopressin) has not been well documented.
Case summary:
Here, we describe the dynamic changes in circulating cortisol and copeptin during an entire episode of Takotsubo syndrome in a post-partum woman after spontaneous vaginal delivery. The patient was diagnosed with inverted Takotsubo syndrome accompanied by HELLP syndrome. We found qualitative and quantitative changes in cortisol: a loss of circadian rhythm and a three-fold elevation in the plasma concentration of the hormone with a peak appearing several hours before circulating cardiac biomarkers began to rise. By contrast, levels of copeptin remained normal during the entire episode.
Discussion:
Our findings indicate that the levels of cortisol change during Takotsubo syndrome whereas those of copeptin do not. This association between elevated cortisol and Takotsubo syndrome suggests that aberrant levels of this stress hormone may contribute to the observed cardiac pathology. We conclude that biochemical assays of circulating cortisol and cardiac biomarkers may be a useful complement to the diagnosis of Takotsubo syndrome by non-invasive cardiac imaging.
Amniotic band syndrom at Bobo Dioulasso university teaching hospital (Burkina-Faso): about two cases
Authors: Cyprien Zaré, Ibrahim Alain Traoré, Patrick Wendpuoiré Hamed Dakouré, Salif Gandéma, Bakary Gustave Sano, Lazard Bouma Bénao, Hermann Belemlilga, Nassirou Yabré
Journal: Pan Afr Med J (2015)
Keywords: amniotic band syndrom, birth defects, surgery
MeSH terms: Amniotic Band Syndrome / pathology, Clubfoot / etiology, Syndactyly / etiology, Case Reports, Amniotic Band Syndrome / diagnosis, Amniotic Band Syndrome / surgery, Burkina Faso, Clubfoot / pathology, Clubfoot / surgery, Hospitals, University, Humans, Infant, Newborn, Male, Syndactyly / pathology, Syndactyly / surgery

Amniotic band syndrome is a rare congenital disorder. The authors report the first cases documented at Souro Sanou University Hospital in Bobo-Dioulasso (CHUSS) in 2 male new borns. The malformations found at birth, were worn only on limbs and were in the form of skin furrow necking with a major lymphedema downstream. In both cases, the constriction furrow at member pelvic was associated with a club foot and a pseudosyndactyly in one case. Surgical treatment consisted of a section of the constrictor ring and a Z-plasty. The functional outcome was satisfactory with the acquisition of a plantar support for both children. Through these two observations, epidemiological, diagnostic, and particularities of the management of this condition are discussed in the Burkina-Faso.
Nasogastric Tube-Induced Catastrophic Airway Compromise Due to a Large Blood Clot
Authors: Elliot Runge, Salman Mohammed, Mutsumi Kioka
Journal: Cureus (2023)
Keywords: aspiration hazard, cognitive defect, difficult airway management, nasogastric tube complications, nose bleed
MeSH terms: Case Reports

Nasogastric and orogastric tube (NGT/OGT) insertion is a routine in-hospital procedure used in patients who need enteral feeding, medication administration, and gastric decompression in a patient unable to tolerate per oral administration. NGT insertion has a relatively low complication rate when performed adequately; however, previous studies demonstrate that associated complications range from delicate, simple nose bleeds to more severe conditions such as nasal mucosal bleeding, which can be easily aspirated in a patient with encephalopathy or other conditions associated with the inability to protect the airway. Here we present a case of traumatic NGT insertion causing nasal bleeding, leading to respiratory distress secondary to aspiration of blood clot obscuring the airway.
Conversion therapy for advanced intrahepatic cholangiocarcinoma with lenvatinib and pembrolizumab combined with gemcitabine plus cisplatin: A case report and literature review
Authors: Wei Zhang, Chu Luo, Zun-Yi Zhang, Bi-Xiang Zhang, Xiao-Ping Chen
Journal: Front Immunol (2023)
Keywords: antiangiogenic therapy, chemotherapy, conversion therapy, immunotherapy, intrahepatic cholangiocarcinoma
MeSH terms: Bile Duct Neoplasms / pathology, Cholangiocarcinoma / pathology, Review, Case Reports, Research Support, Non-U.S. Gov't, Bile Ducts, Intrahepatic / pathology, Cisplatin / therapeutic use, Deoxycytidine / therapeutic use, Gemcitabine, Humans, Male, Middle Aged, Gemcitabine, Cisplatin, lenvatinib, pembrolizumab, Deoxycytidine

Background:
Intrahepatic cholangiocarcinoma (ICC) is a highly malignant biliary tumor. Patients with unresectable and advanced ICC have a poor prognosis with current gemcitabine-based chemotherapy. Combination therapy strategies based on immunotherapy have achieved promising results in various tumor types.
Case presentation:
We reported a patient with unresectable ICC who received lenvatinib and pembrolizumab in combination with gemcitabine plus cisplatin (GP) chemotherapy and subsequently underwent radical liver resection. A 46-year-old male with a history of chronic hepatitis B and hypertension was diagnosed with ICC. Multiple liver tumors with ring-like enhancement were detected on abdominal contrast-enhanced CT and MRI. Enlarged lymph nodes were found in the hilar and retroperitoneal areas. The tumor was clinically staged as T2N1M0 (stage IIIB). Lenvatinib and pembrolizumab in combination with GP chemotherapy were adopted as first-line treatments for the patient. After six cycles of scheduled treatment, the diameter of the largest liver lesion and the number of liver lesions were markedly reduced. The level of the tumor marker CA19-9 decreased to a normal range. A partial response according to the mRECIST criteria was achieved without severe toxicities. Non-anatomical liver resection (segment 4b, 5,6 + segment 7 + segment 8), cholecystectomy and hilar lymph node dissection were performed one month after stopping combination therapy. Pathological examination confirmed a diagnosis of moderate-to-poorly differentiated ICC with lymph node metastasis. The patient has survived 15 months following resection of the tumors, with no evidence of local recurrence or distant metastasis.
Conclusion:
Lenvatinib and anti-PD1 antibody pembrolizumab in combination with GP chemotherapy provided promising antitumor efficacy with reasonable tolerability, which may be a potentially feasible and safe conversion therapy strategy for patients with initially unresectable and advanced ICC.
An Episode of Pseudothrombocytopenia during Pembrolizumab Therapy in NSCLC Patient
Authors: Kinga Krukowska, Robert Kieszko, Katarzyna Kurek, Izabela Chmielewska, Paweł Krawczyk, Janusz Milanowski
Journal: Case Rep Oncol Med (2020)
MeSH terms: Case Reports

Immunotherapy with immune checkpoint inhibitors (ICI) is a new option of treatment in a growing range of neoplasms. In addition to an antitumor effect, ICI are associated with autoimmune reactions resulting in a wide spectrum of toxicities that have not been seen in patients receiving chemotherapy. In this article, we present a case of a patient with advanced lung adenocarcinoma who developed an EDTA-dependent pseudothrombocytopenia (PTCP) during pembrolizumab therapy. To the best of our knowledge, this is the first reported case of EDTA-dependent PTCP occurring during immunotherapy treatment of nonsmall lung cell cancer with ICI. The phenomenon of EDTA-dependent PTCP may prompt clinical decisions, as unnecessary transfusions or even exclusion from pembrolizumab therapy. Therefore, it is important to be aware of PTCP as a possible side effect of this therapy.
Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation
Authors: Sami Raja Alallasi, Amal A Kokandi, Babajan Banagnapali, Noor Ahmad Shaik, Bandar Ali Al-Shehri, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Musharraf Jelani
Journal: Front Pediatr (2019)
Keywords: saudi arabia, exome sequencing, lamellar ichthyosis, novel compound heterozygous, transglutaminase 1 gene
MeSH terms: Case Reports

Background: Lamellar ichthyosis is an autosomal recessive type of rare skin disorders characterized with defective epidermis leading hyperkeratosis with brownish-gray scales over the body. These patients are born as collodion babies and may also exhibit additional features like erythema, ectropion, and eclabium. This disease is mainly caused by homozygous and compound heterozygous alterations in transglutaminase 1 encoding gene (TGM1), which is located on 14q12. Case presentation: This study reports the genetic analysis of a 4-year Saudi girl presenting lamellar ichthyosis. She was the first child of unrelated parents. The family had no previous history of the disease phenotype. She was born as a collodion baby without any prenatal complications. At the time of this study she had developed rough scaly skin on her legs, arms and trunk regions with thick palms and soles. Whole exome sequencing (WES) followed by Sanger sequence validation identified a novel compound heterozygous variant in TGM1 gene. The paternal variant was a missense transition (c.1141G>A; p.Ala381Thr) present at exon 7, while maternal variant (c.758-1G>C) was present at the intron4-exon5 boundary. To the best of our knowledge these variants had not been reported before in TGM1 gene. Conclusion: In isolated and inbred populations, homozygous variants are identified more frequently; however, our results suggest that compound heterozygous variants should also be considered especially when the marriages are not consanguineous.
Use of Extracorporeal Membrane Oxygenation in Patients with Refractory Cardiac Arrest due to Severe Persistent Hypothermia: About 2 Case Reports and a Review of the Literature
Authors: Rachid Attou, Sébastien Redant, Thierry Preseau, Kevin Mottart, Louis Chebli, Patrick M Honore, David De Bels, Andrea Gallerani
Journal: Case Rep Emerg Med (2021)
MeSH terms: Case Reports

We report the cases of two patients experiencing persistent severe hypothermia. They were 45 and 30 years old and had a witnessed cardiac arrest managed with mechanized cardiopulmonary resuscitation (CPR) for 4 and 2.5 hours, respectively. Extracorporeal membrane oxygenation was used in both patients who fully recovered without any neurological sequelae. These two cases illustrate the important role of extracorporeal CPR (eCPR) in persistent severe hypothermia leading to cardiac arrest.
Incremental value of SPECT/CT in detection of Meckel's diverticulum in a 10-year-old child
Authors: Qian Xie, Qingjie Ma, Bin Ji, Shi Gao, Qiang Wen
Journal: Springerplus (2016)
Keywords: meckel’s diverticulum, planar scintigraphy, spect/ct

Introduction:
Meckel's diverticulum is a common congenital abnormality of gastrointestinal tract in children. Planar scintigraphy using Technetium-99m pertechnetate is widely used in the diagnosis of Meckel's diverticulum. Single photon emission computed tomography/computed tomography (SPECT/CT) fusion imaging may help to locate the Meckel's diverticulum lesion. We now present a Meckel's diverticulum case which tends to be missed.
Case description:
The patient was diagnosed with Mecke's diverticulum by planar scintigraphy in 2007. After seven years, a recurrence of hematochezia made the patient undergo planar scintigraphy again. However, the concentration on planar image was located at the right kidney level, we could not determine whether it was caused by physiological uptake of the right kidney or by an ectopic gastric mucosa. Using SPECT/CT technique, we confirmed that the lower part of the concentration was from a Meckel's diverticulum from the small intestine based on the functional and anatomical information together.
Discussion and evaluation:
For concentrations about the kidney level, planar scintigraphy is not enough to be diagnostic of Meckel's diverticulum. SPECT/CT imaging may be beneficial for a definitive diagnosis. Also, fusion images may provide precise localization of the lesion. To make sure that patients obtain optimal benefit from a SPECT/CT examination, we have to balance the priority between information of anatomic location and avoiding redundant radiation to the patients.
Conclusions:
Our case study suggest that for cases with ambiguous planar scintigraphy images, SPECT/CT imaging should be performed to obtain a definitive diagnosis.
Co-administration of Systemic and Intralesional Zoledronic Acid in a Case of Fibrous Dysplasia: A Potentially Novel Therapy
Authors: Sanjay Kumar Bhadada, Rimesh Pal, Ashwani Sood, Vandana Dhiman, Uttam Chand Saini
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: bisphosphonate, fibrous dysplasia (fd), implant fixation, local bisphosphonate, zoledronate
MeSH terms: Case Reports

Fibrous dysplasia (FD) is a benign bone lesion characterized by replacement of normal bone with abnormal fibrous tissue, clinically manifesting as deformities, bone pains, and pathological fractures. The standard medical management for FD includes systemic bisphosphonate therapy. The efficacy of systemic bisphosphonate is however limited with minimal functional improvement and pain relief. Keeping the above lacunae in mind, we have made a solitary attempt at treating FD with locally administered zoledronic acid. A 25-year-old gentleman had presented to our institute with swelling and pain involving the left thigh and left lower leg. He was diagnosed as having polyostotic FD, confirmed on bone histopathology. He was administered 4 mg of zoledronic acid intravenously while 1 mg of the drug was injected locally into the femoral lesion under ultrasound and fluoroscopy guidance. There were no peri-procedural complications. At 6 months follow-up, there was marked improvement in pain scores at the left thigh, while that at the left leg remained unchanged. In addition, repeat bone scintigraphy showed a 20.8% and 25.3% reduction in anterior and posterior uptake values, respectively, at the left femur while that at the left tibia remained unaltered.
Two Cases of γ-Heavy Chain Disease and a Review of the Literature
Authors: I Ramasamy, Z Rudzki
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Gamma heavy chain disease (γ-HCD) is a rare lymphoproliferative disorder characterised by the production of a truncated immunoglobulin heavy chain. Fewer than 200 cases have been reported in the literature. In some cases, γ-HCD occurs with other lymphoid neoplasms. This study reports clinical, biochemical, haematological, and histological findings in two cases of γ-HCD. We describe newer biochemical diagnostic tools (HevyLite measurement, capillary electrophoresis, and immunotyping) that can aid in the characterisation of γ-HCD. The first case is an 88-year-old woman with γ-HCD. The second case is an 81-year-old woman who developed γ-HCD during treatment for Waldenstrom's macroglobulinemia. In the second patient, histopathology identified a separate clone responsible for the secretion of the gamma heavy chain. Studies on the clonal evolution of the disease may provide insight into therapeutic implications and the genomic complexity of the disease.