OpenMed/multicare-articles huggingface dataset:
The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review
Authors: Jianlong Zhuang, Chunnuan Chen, Jia Li, Yuying Jiang, Junyu Wang, Yuanbai Wang, Shuhong Zeng, Yiming Lin, Yingjun Xie
Journal: Front Pediatr (2021)
Keywords: sox3 gene, xq271q272 duplication, chromosomal microarray analysis, disorder of sex development, ovotestis
MeSH terms: Case Reports

Background: Very few reports are available on human XX ovotesticular disorder of sex development involving SOX3 gene duplication. Here we aim to present a rare case of SOX3 gene duplication in a person from the Chinese population who exhibits XX ovotesticular disorder of sex development. Case Presentation: A 7-year-old Chinese individual from Fujian province in Southeast China was recruited. The patient presented 46, XX karyotype, absence of sex-determining region Y, and was diagnosed with XX ovotesticular disorder of sex development. Furthermore, SNP array analysis demonstrated that the patient had a 2.2-Mb duplication in the Xq27.1q27.2 region (arr[hg19]Xq27.1q27.2:139,499,778-141,777,782) involving the SOX3 gene. Additionally, no SOX3 duplication was observed in the parents or the sibling, who displayed none of the clinical features. Conclusion: We identified the first case of SOX3 duplication in a Chinese individual who exhibits ovotesticular disorder of sex development. Our study strengthens the link between the SOX3 duplication and XX ovotesticular disorder of sex development and indicates that SOX3 is the evolutionary antecedent of sex-determining region Y.
Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex
Authors: Gabriella D'Angelo, Lucia Marseglia, Salvatore Aversa, Sara Manti, Caterina Cuppari, Mariaconcetta Cutrupi, Carmelo Salpietro, Eloisa Gitto
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term "expanded Goldenhar complex" has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known that nervous system anomalies, including encephalocele or caudal regression, may, rarely, occur in this condition. We report two rare cases of infants affected by Goldenhar Syndrome, associated with neural tube defects, specifically caudal regression syndrome and nasal encephaloceles, to underline the extremely complex and heterogeneous clinical features of this oculoauriculovertebral spectrum. These additional particular cases could increase the number of new variable spectrums to be included in the "expanded Goldenhar complex."
Case Report: Clinical application of continuous arterial infusion chemotherapy in neoadjuvant therapy for locally advanced gastric cancer
Authors: Wenli Lin, Zhongxian Huang, Zhenhua Du, Yunshan Wang, Taiyang Zuo
Journal: Front Oncol (2023)
Keywords: chemotherapy, continuous arterial infusion, intra-arterial infusion, locally advanced gastric cancer, neoadjuvant therapy
MeSH terms: Case Reports

Platinum-fluorouracil combination chemotherapy is the standard neoadjuvant treatment for locally advanced gastric cancer in China, but it does not improve the survival benefit of patients. In recent years, the application of immune checkpoint inhibitors and/or targeted drugs in neoadjuvant therapy for gastric cancer has achieved certain efficacy, but the survival benefit of patients is still not obvious. Intra-arterial infusion chemotherapy, as a method of regional therapy, has been widely used in the treatment of many advanced tumors and achieved remarkable curative effect. The role of arterial infusion chemotherapy in neoadjuvant therapy for gastric cancer is not clear. We describe two patients with locally advanced gastric cancer treated with continuous arterial infusion neoadjuvant chemotherapy. Two patients received continuous arterial infusion of chemotherapy drugs for 50 hours, the drugs were pumped into the main feeding artery of the tumor through the arterial catheter. A total of 4 cycles were followed, then undergone surgical resection. The postoperative pathological pCR of two patients was 100%, TRG was 0 grade, and no further anti-tumor therapy was required after operation, achieving clinical cure. During the treatment period, no serious adverse events occurred in either patient. These results suggest that continuous arterial infusion chemotherapy may be a new adjuvant therapy for locally advanced gastric cancer.
Atypical Presentations of Collagenous Gastritis Mimicking Celiac Sprue
Authors: Mark G Evans, Jack P Guccione, Anthony Crymes, Xiaodong Li, Cary A Johnson, Vishal S Chandan, Yuxin Lu
Journal: Case Rep Gastrointest Med (2023)
MeSH terms: Case Reports

Collagenous gastritis has been reported as a rare cause of nausea, diarrhea, weight changes, and early satiety in female patients. Here, we describe two women aged 43 and 71 years who presented with similar symptoms. Gastric biopsies from both individuals showed thickened, irregular subepithelial collagen bands (>10 μm). The pathogenesis of collagenous gastritis is poorly understood, but it may be the presenting symptom for many underlying autoimmune conditions. In particular, there is a well-established connection between collagenous disorders of the gastrointestinal tract and celiac sprue, Sjögren syndrome, and lymphocytic colitis; however, none of these conditions had been diagnosed in our patients. The older woman had incidentally discovered hypogammaglobinemia and IgA deficiency, whereas the younger woman suffered from fibromyalgia. Although a gluten-free diet and budesonide have been effective in some cases, there is no standardized therapy for collagenous gastritis. Our patients trialed diet modification and have required no additional medical interventions.
Multiple Stereoelectroencephalography-Guided Radiofrequency Thermocoagulations for Polymicrogyria With Startle Seizures: A Case Report
Authors: Yi'Ou Liu, Wenjing Zhou, Bo Hong, Tong Zhao, Chengwei Xu, Jing Ruan, Jianjun Bai, Siyu Wang
Journal: Front Neurol (2019)
Keywords: multiple seeg-guided rf-tcs, polymicrogyria, startle seizure, stereoelectroencephalography (seeg), surgical outcome
MeSH terms: Case Reports

The best results of stereoelectroencephalography (SEEG)-guided radiofrequency thermocoagulation (RF-TC) were observed in epilepsies with more limited lesions, but this procedure is rarely used in a wide range of brain malformation. We report a rare case of polymicrogyria (PMG) combined with drug-resistant startle seizures. Presurgical monitoring was performed using SEEG owing to the large lesion and complexity of PMG. According to the intracranial electrode results, the seizure onset was extensive, with the onset starting earlier in the cingulate sulcus and insular pole than in other sites of the other electrodes. Multi-point and multi-step SEEG-guided RF-TC was used for diffuse lesion and functional protection. RF-TC was first applied to the cingulate sulcus and insular pole, and our patient was rendered free from startle seizures after 2 weeks. Two weeks of observation helped us to observe the efficacy of RF-TC and the changes of SEEG, so as to make the next TC scheme. The patient still had spontaneous seizures after the first treatment. RF-TC was then applied to other sites involved earlier. Finally, the patient reached Engel class IIa for a follow-up period of 1 year. There were no additional startle seizures, and important functional areas were protected.
Case Report: Fenestration embedded in large vessel occlusion at non-branching site: A catastrophic trap for mechanical thrombectomy
Authors: Xiaoxi Zhang, Weilong Hua, Lei Zhang, Yongxin Zhang, Yongwei Zhang, Jianmin Liu, Pengfei Yang, Xiaolong Xu, Zifu Li
Journal: Front Surg (2022)
Keywords: fenestration, mechanical thrombectomy, occlusion, stent retriever, stroke
MeSH terms: Case Reports

Fenestrations are rare anatomical variants characterized by division of an artery into two channels which join distally to form a single lumen. We here present two acute ischemic stroke patients with occlusion in an arterial segment with fenestration. Both occlusion sites were located at the non-branching site: one in the mid-basilar trunk and one middle cerebral artery trunk. Successful reperfusion was achieved in both patients, but angioplasty was avoided during thrombectomy procedure. The two cases establish that fenestration may be embedded in non-branching site occlusion. Surgeons should take this abnormality into account to prevent angioplasty from causing vessel rupture in the setting of fenestration.
Ataxia-telangiectasia in China: a case report of a novel ATM variant and literature review
Authors: Li Shao, Haoyi Wang, Jianbo Xu, Ming Qi, Zhaonan Yu, Jing Zhang
Journal: Front Neurol (2023)
Keywords: atm gene, ataxia-telangiectasia, case report, cerebellar atrophy, literature review
MeSH terms: Case Reports

Background:
Ataxia-telangiectasia (A-T) is a multisystem genetic disorder involving ataxia, oculocutaneous telangiectasia, and immunodeficiency caused by biallelic pathogenic variants in the ATM gene. To date, most ATM variants have been reported in the Caucasian population, and few studies have focused on the genotype-phenotype correlation of A-T in the Chinese population. We herein present a Chinese patient with A-T who carries compound heterozygous variants in the ATM gene and conducted a literature review for A-T in China.
Case presentation:
A 7-year-old Chinese girl presented with growth retardation, ataxia, medium ocular telangiectasia, cerebellar atrophy, and elevated serum alpha-fetoprotein (AFP) level, which supported the suspicion of A-T. Notably, the serum levels of immunoglobulins were all normal, ruling out immunodeficiency. Exome sequencing and Sanger sequencing revealed two likely pathogenic ATM variants, namely NM_000051.4: c.4195dup (p.Thr1399Asnfs*15) and c.6006 + 1G>T (p.?), which were inherited from her father and mother, respectively. From the Chinese literature review, we found that there was a marked delay in the diagnosis of A-T, and 38.9% (7/18) of A-T patients did not suffer from immunodeficiency in China. No genotype-phenotype correlation was observed in this group of A-T patients.
Conclusion:
These results extend the genotype spectrum of A-T in the Chinese population and imply that the diagnosis of A-T in China should be improved.
Improvement in hearing after chiropractic care: a case series
Authors: Joseph O Di Duro
Journal: Chiropr Osteopat (2006)

Background:
The first chiropractic adjustment given in 1895 was reported to have cured deafness. This study examined the effects of a single, initial chiropractic visit on the central nervous system by documenting clinical changes of audiometry in patients after chiropractic care.
Case presentation:
Fifteen patients are presented (9 male, 6 female) with a mean age of 54.3 (range 34-71). A Welch Allyn AudioScope 3 was used to screen frequencies of 1000, 2000, 4000 and 500 Hz respectively at three standard decibel levels 20 decibels (dB), 25 dB and 40 dB, respectively, before and immediately after the first chiropractic intervention. Several criteria were used to determine hearing impairment. Ventry & Weinstein criteria of missing one or more tones in either ear at 40 dB and Speech-frequency criteria of missing one or more tones in either ear at 25 dB. All patients were classified as hearing impaired though greater on the right. At 40 dB using the Ventry & Weinstein criteria, 6 had hearing restored, 7 improved and 2 had no change. At 25 dB using the Speech-frequency criteria, none were restored, 11 improved, 4 had no change and 3 missed a tone.
Conclusion:
A percentage of patients presenting to the chiropractor have a mild to moderate hearing loss, most notably in the right ear. The clinical progress documented in this report suggests that manipulation delivered to the neuromusculoskeletal system may create central plastic changes in the auditory system.
Management of a growing Skeletal Class II Patient: A Case Report
Authors: Narendra Shriram Sharma
Journal: Int J Clin Pediatr Dent (2013)
Keywords: growing skeletal class ii, orthodontics and dentofacial orthopedics, pubertal growth spurt, ‘two phase’ management
MeSH terms: Case Reports

Sagittal and transverse discrepancies often coexist in skeletal class II malocclusions. Orthopedic growth modification can work well in such cases, provided that the remaining pubertal growth is adequate and that the clinician can provide timely treatment to coincide with the peak growth period. The transverse discrepancy is generally corrected first, establishing a proper base for the sagittal correction to follow. For example, in a skeletal class II case with a narrow maxillary arch and retrusive mandible, maxillary expansion is performed initially to facilitate functional mandibular advancement. The present article illustrates an exception to this rule, in a case where sagittal correction was undertaken before transverse correction to make optimal use of the patient's pubertal growth spurt in first phase followed by a second phase of fixed appliance therapy during adolescence to achieve optimal results. How to cite this article: Sharma NS. Management of a growing Skeletal Class II Patient: A Case Report. Int J Clin Pediatr Dent 2013;6(1):48-54.
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma
Authors: María T García-Antón, Juan J Salazar, Rosa de Hoz, Blanca Rojas, Ana I Ramírez, Alberto Triviño, José-Daniel Aroca-Aguilar, Julián García-Feijoo, Julio Escribano, José M Ramírez
Journal: PLoS One (2017)
MeSH terms: Cytochrome P-450 CYP1B1 / genetics, Genotype, Glaucoma / congenital, Glaucoma / genetics, Case Reports, Adolescent, Child, Female, Glaucoma / complications, Glaucoma / enzymology, Humans, Male, Mutation, Pedigree, Phenotype, CYP1B1 protein, human, Cytochrome P-450 CYP1B1

Mutations in the CYP1B1 gene are currently the main known genetic cause of primary congenital glaucoma (PCG), a leading cause of blindness in children. Here, we analyze for the first time the CYP1B1 genotype activity and the microscopic and clinical phenotypes in human PCG. Surgical pieces from trabeculectomy from patients with PCG (n = 5) and sclerocorneal rims (n = 3) from cadaver donors were processed for transmission electron microscopy. Patients were classified into three groups depending on goniodysgenesis severity, which was influenced by CYP1B1 enzymatic activity. The main histological changes observed in the outflow pathway of patients with PCG and mutations in CYP1B1 were: i) underdeveloped collector channels and the Schlemm's canal; ii) abnormal insertion of the ciliary muscle; iii) death of the trabecular endothelial cells. Our findings could be useful in improving treatment strategy of PCG associated with CYP1B1 mutations.
Case Report: Recurrence of Testicular Myofibroblastic Tumor After Surgery
Authors: Jiayi Liu, Zhijie Bai, Shuaiqi Li, Sheng Zeng, Chuang Li, Qian Liu
Journal: Front Oncol (2022)
Keywords: case report, inflammatory myofibroblastic tumor, inflammatory pseudotumour, plasma cell granuloma, recurrence, spindle cell neoplasms, testis
MeSH terms: Case Reports

Inflammatory myofibroblastic tumour (IMT), also known as plasma cell granuloma (PCG) or inflammatory pseudotumour (IPT), is a distinctive, rarely metastasizing neoplasm composed of myofibroblastic and fibroblastic spindle cells accompanied by inflammatory infiltration of plasma cells, lymphocytes and/or eosinophils. IMT predominantly affects children and young adults, and the age at presentation ranges from 3 to 89 years. We present a very rare case of recurrent testicular IMT without ALK rearrangement. This case highlights the clinical characteristics and diagnostic factors associated with primary and recurrent foci of this rare tumour, along with key therapeutic approaches.
Adrenocorticotropin Hormone Secreting Carcinoma of the Pancreas: A Case Report
Authors: Josh Bleicher, Sarah Lombardo, Stacie Carbine, Dmitri Kapitonov, Maria A Pletneva, Sean J Mulvihill
Journal: J Pancreat Cancer (2019)
Keywords: adrenocorticotropin hormone, neuroendocrine tumor, pancreatic endocrine neoplasm
MeSH terms: Case Reports

Introduction: Adrenocorticotropin hormone (ACTH) secreting pancreatic neuroendocrine neoplasms (pNENs) are rare. The clinical and biological behavior of pNENs is poorly understood. Patients often present at an advanced stage of disease and outcomes remain poor. This report demonstrates a case of ectopic Cushing's syndrome secondary to an ACTH-producing pancreatic neuroendocrine carcinoma (pNEC). Case report: A 54-year-old woman presented with rapidly progressive Cushing's syndrome complicated by hypertension and acute heart failure. This was ultimately found to be secondary to a metastatic ACTH-producing pNEC. She underwent laparoscopic distal pancreatectomy and splenectomy with hepatic metastasectomy as primary treatment. She had rapid correction of her endocrine abnormalities and associated physiological abnormalities. She had progressive hepatic metastases found on imaging at 3 months, but remained free of significant endocrine abnormalities for 9 months after surgery. Her disease did recur and she died of complications associated with her disease at 1 year after her surgery. Conclusion: ACTH-producing pNEN is a very rare disease with a poor prognosis. Robust evidence to guide treatment decisions is limited. This report suggests that aggressive surgical management of primary and metastatic lesions for management of this disease is reasonable, consistent with prior case reports. Control of endocrine abnormalities offers the best opportunity for prolonged survival, and an aggressive surgical approach can achieve this goal. The patient presented had control of endocrine abnormalities after surgery for 9 months before symptomatic disease recurrence.
Intestinal subocclusion due to colonic lipoma: a case report
Authors: Kamal Bentama, Miloud Chourak, Ilias Chemlal, Mohamed Benabbou, Mohamed Raiss, Abdelmalek Hrora, Farid Sabbah, Abdesslam Benamer, Mohamed Ahellat
Journal: Pan Afr Med J (2011)
Keywords: colon, benign tumor, colectomy, colonoscopy, endoscopy, lipoma, occlusion
MeSH terms: Colonic Diseases / etiology, Colonic Neoplasms / complications, Intestinal Obstruction / etiology, Lipoma / complications, Case Reports, Adult, Female, Humans

Colonic lipomas are rare benign tumors infrequently met in clinical practice. Most of them are asymptomatic making frequent their fortuitous discovery. The therapeutic approach to the fortuitous discovery of a lipoma is even less clear. The treatment depends essentially on the clinical picture, on the size of the lipoma and on its location. We report the case of a 31-year old woman, which sub-occlusive accidents events revealed a lipoma of the descending colon. The diagnosis was suspected on colonoscopy and segmental colectomy was performed. The diagnosis was confirmed by histological examination. We review the literature and discuss the clinical features, diagnosis and treatment of this uncommon disease.
AIDS with obesity, hypothyroidism and elevated serum creatinine: A case report
Authors: Chenxi Zhang, Chuyue Qian, Wanning Wang, Zhi Chen, Yangyang Lin, Mindan Sun
Journal: Front Med (Lausanne) (2023)
Keywords: haart, hiv, elevated serum creatinine, hypothyroidism, levothyroxine, obesity
MeSH terms: Case Reports

Hypothyroidism is a prevalent endocrine illness with a variety of clinical symptoms, but among which elevated serum creatinine is uncommon. Hypothyroidism is also common in acquired immunodeficiency syndrome (AIDS) patients, especially those receiving highly active antiretroviral treatment (HAART). Here we present a case of a young AIDS patient with hypothyroidism, increased serum creatinine, and obesity. Despite the lack of a kidney biopsy, following levothyroxine (LT4) therapy, his serum creatinine recovered to normal levels, and weight loss, edema, weakness, rough skin and other clinical symptoms obtained notable improvement. This highlights the need of clinicians paying attention to whether thyroid function is aberrant in human immunodeficiency virus (HIV) patients with increased creatinine, edema and significant weight gain since prompt thyroid hormone therapy can restore the alterations in renal function and avoid invasive renal biopsy.
Posterior Reversible Encephalopathy Syndrome due to Hypomagnesemia: A Case Report and Literature Review
Authors: Mohamad Almoussa, Angelika Goertzen, Stephan Brauckmann, Barbara Fauser, Christoph W Zimmermann
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Background:
Hypomagnesemia can cause various unspecific neurological complications, which can lead to diagnostic confusion. One of these complications is the posterior reversible encephalopathy syndrome (PRES), which is extremely uncommon and has been reported only twice in the English-language literature.
Case presentation:
We report the case of a 60-year-old man who presented with PRES involving only the cerebellar hemispheres and associated with hypomagnesemia. After excluding all the other possible etiologies of PRES, we started magnesium replacement therapy, which led to a remarkable but fluctuating clinical and chemical improvement. A full recovery with no need for further supplementation was achieved only after discontinuation of a proton pump inhibitor.
Conclusions:
This case highlights the role of magnesium in the pathophysiology of PRES; thereby, underlying hypomagnesemia should be considered in every PRES case with unclear etiology.
Single coronary artery presenting dilated cardiomyopathy and hyperlipidemia with the SCN5A and APOA5 gene mutation: A case report and review of the literature
Authors: Xiaoxia Hu, Jing Kong, Tingting Niu, Liang Chen, Jingjing Yang
Journal: Front Cardiovasc Med (2023)
Keywords: scn5a, dilated cardiomyopathy, genetic mutation, hyperlipidemia, single coronary artery
MeSH terms: Review

We present a 55-year-old man with chest tightness and dyspnoea after activity lasting for 2 months who was diagnosed with single coronary artery (SCA) and presented with dilated cardiomyopathy (DCM) with the c.1858C > T mutation in the SCN5A gene. The computed tomography coronary angiogram (CTCA) showed congenital absence of the right coronary artery (RCA), and the right heart was nourished by the left coronary artery branch with no apparent stenosis. Transthoracic echocardiography (TTE) revealed enlargement of the left heart and cardiomyopathy. Cardiac magnetic resonance imaging (CMR) revealed DCM. Genetic testing showed that the c.1858C > T variant of the SCN5A gene could lead to Brugada syndrome and DCM. SCA is a rare congenital anomaly of the coronary anatomy, and this case reported as SCA accompanied by DCM is even rarer. We present a rare case of a 55-year-old man with DCM with the c.1858C > T (p. Arg620Cys)/c.1008G > A (p.(Pro336=) variant of the SCN5A gene, congenital absence of RCA, and c.990_993delAACA (p. Asp332Valfs*5) variant of the APOA5 gene. To our knowledge, this is the first report of DCM combined with the SCN5A gene mutation in SCA after searching the PubMed, CNKI and Wanfang databases.