OpenMed/multicare-articles huggingface dataset:
Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report
Authors: Carolina Cecchetti, Elisabetta Belardinelli, Paola Dionese, Rita Teglia, Roberta Fazzeri, M Rosaria D' Apice, Amanda Vestito, Uberto Pagotto, Alessandra Gambineri
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: agpat2 gene, congenital generalized, hypolipaemic diet, lipodystrophy, metabolic complications
MeSH terms: Leptin / genetics, Lipodystrophy, Congenital Generalized / genetics, Lipodystrophy, Congenital Generalized / therapy, Case Reports, Diet, Fat-Restricted, Homozygote, Humans, Male, Phenotype, Leptin

Background and objective:
Severe metabolic complications generally manifest at an early age in Berardinelli - Seip congenital lipodystrophy (BSCL) and their management is especially challenging. Nutritional intervention with low lipid diets is considered by experts to be fundamental in treating the disease when associated with medical therapy, however little is known about the beneficial effects of dietary interventions alone.
Aim:
To underline the importance of a well-structured low-fat diet in BSCL patients.
Methods and results:
A BSCL male patient strictly followed a hypocaloric hypolipemic diet (60% carbohydrates, 22% fats and 18% proteins) since clinical diagnosis at the age of one year. Interestingly, pharmacological interventions were not required at any point during the follow-up. Aged 16 years the patient was referred to our center. Biochemistry, hormonal evaluation, 75 mg oral glucose tolerance test, cardiac evaluation and abdominal ultrasound were performed, revealing no abnormalities. Genetic analysis and leptin dosage were carried out, confirming the diagnosis of BSCL type 1 (homozygosity for c.493-1G>C pathogenic variant in AGPAT2 gene) and showing undetectable circulating levels of leptin (< 0.2 mcg/L). Diet therapy alone was therefore maintained, scheduling follow-up visits every six months, with acceptable disease control ever since.
Conclusions:
This report proves how a low-fat diet is of great help in the management of BSCL and its complications. In addition, a specific hypolipemic diet could be used alone as an effective treatment in selected cases with high compliance and, probably, a milder phenotype.
Continuous venous hemodialysis integrated to the ECMO circuit in critically ill patient with COVID-19, a case report in Morocco
Authors: Anass Mounir, Saara Lamghari, Amine Raja, Khalil Allali, Sara Chebbar, Basma Buri, Yasmine Mahdar, Chafik El Kettani, Benyounes Ramdani, Youssef Ettaoumi, Ghali Benouna, Lahoucine Barrou
Journal: Pan Afr Med J (2020)
Keywords: ards, covid-19, ecmo, hemodialysis
MeSH terms: Betacoronavirus, Continuous Renal Replacement Therapy / methods, Coronavirus Infections / complications, Critical Illness / therapy, Extracorporeal Membrane Oxygenation / instrumentation, Pneumonia, Viral / complications, Case Reports, Acute Kidney Injury / etiology, Acute Kidney Injury / therapy, Anti-Bacterial Agents / therapeutic use, Antiviral Agents / therapeutic use, Bacteremia / complications, COVID-19, COVID-19 Drug Treatment, Combined Modality Therapy, Continuous Renal Replacement Therapy / instrumentation, Coronavirus Infections / drug therapy, Cytokine Release Syndrome / etiology, Diabetes Mellitus, Type 2 / complications, Fatal Outcome, Female, Gram-Positive Bacterial Infections / complications, Humans, Middle Aged, Morocco, Pandemics, Respiration, Artificial, Respiratory Distress Syndrome / etiology, SARS-CoV-2, Anti-Bacterial Agents, Antiviral Agents

Novel coronavirus 2019 (COVID-19) is a severe respiratory infection leading to acute respiratory distress syndrome [ARDS] accounting for thousands of cases and deaths across the world. Several alternatives in treatment options have been assessed and used in this patient population. However, when mechanical ventilation and prone positioning are unsuccessful, venovenous extracorporeal membrane oxygenation [VV-ECMO] may be used. We present a case of a 62-year-old female, diabetic, admitted to the intensive care unit with fever, flu-like symptoms and a positive COVID-19 test. Ultimately, she worsened on mechanical ventilation and prone positioning and required VV-ECMO. The use of VV-ECMO in COVID-19 infected patients is still controversial. While some studies have shown a high mortality rate despite aggressive treatment, such as in our case, the lack of large sample size studies and treatment alternatives places healthcare providers against a wall without options in patients with severe refractory ARDS due to COVID-19.
Neoadjuvant Multikinase Inhibitor in Patients With Locally Advanced Unresectable Thyroid Carcinoma
Authors: Carla Fernanda Nava, Rafael Selbach Scheffel, Ana Patrícia Cristo, Carla Vaz Ferreira, Shana Weber, André Borsatto Zanella, Francisco Costa Paixão, Alceu Migliavaca, José Ricardo Guimarães, Marcia Silveira Graudenz, José Miguel Dora, Ana Luiza Maia
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: locally invasive thyroid tumors, multikinase inhibitors, neoadjuvant therapy, thyroid carcinoma, unresectable thyroid tumors
MeSH terms: Case Reports

Background: Papillary thyroid carcinoma (PTC) is the most common and less aggressive thyroid cancer, but some patients may display locally advanced disease. Therapeutic options are limited in these cases, particularly for those patients with unresectable tumors. Neoadjuvant therapy is not part of the recommended work up. Methods: Report a case of an unresectable grossly locally invasive PTC successfully managed with neoadjuvant therapy and provide a systematic review (SR) using the terms "Neoadjuvant therapy" AND "Thyroid carcinoma." Results: A 32-year-old man with a 7.8 cm (in the largest dimension) PTC was referred to total thyroidectomy, but tumor resection was not feasible due to extensive local invasion (trachea, esophagus, and adjacent structures). Sorafenib, a multikinase inhibitor (MKI), was initiated; a 70% tumor reduction was observed after 6 months, allowing new surgical intervention and complete resection. Radioactive iodine (RAI) was administered as adjuvant therapy, and whole body scan (WBS) shows uptake on thyroid bed. One-year post-surgery the patient is asymptomatic with a status of disease defined as an incomplete biochemical response. The SR retrieved 123 studies on neoadjuvant therapy use in thyroid carcinoma; of them, 6 were extracted: 4 case reports and 2 observational studies. MKIs were used as neoadjuvant therapy in three clinical cases with 70-84% of tumor reduction allowing surgery. Conclusion: Our findings, along with other reports, suggest that MKIs is an effective neoadjuvant therapy and should be considered as a therapeutic strategy for unresectable grossly locally invasive thyroid carcinomas.
The Durable Effect of Pyrotinib Plus Trastuzumab and Chemotherapy in HER2-Positive Gastric Cancer With Brain Metastases: A Case Report and Literature Review
Authors: Xinwei Wang, Yun Zeng, Junling Zhang, Mengli Huang, Bijian Yin
Journal: Front Oncol (2022)
Keywords: her-2, case report, gastric cancer, pyrotinib, trastuzumab
MeSH terms: Case Reports

Gastric cancer (GC) is a disease with macromolecular phenotypic heterogeneity and poor prognosis, especially for metastatic GC (mGC). Chemotherapy is the first choice for second-line treatment. However, the benefits of second-line chemotherapy are limited, so there is an urgent need for new treatment regimens to improve patient outcomes. A 65-year-old man with mGC was HER-2 positive. Standard trastuzumab, combined with chemotherapy, was given in the first-line therapy and progression-free survival (PFS) was 8 months. Second-line treatment with pyrotinib in combination with trastuzumab and chemotherapy yielded a PFS of 20 months, in sharp contrast to a median survival of 2.9-6.2 months for a majority of advanced GC patients. This case provides a meaningful reference for the second-line treatment of mGC patients with HER-2 positive. This case also provides valuable information on the response to pyrotinib plus trastuzumab of patients with brain metastases and a better understanding of dual target combination therapy applications in the future.
Plasmablastic Lymphoma in an Immunocompetent Patient with MDS/MPN with Ring Sideroblasts and Thrombocytosis-A Case Report
Authors: Anthi Bouchla, Sotirios G Papageorgiou, Zoi Tsakiraki, Eirini Glezou, George Pavlidis, Georgia Stavroulaki, Efthimia Bazani, Periklis Foukas, Vasiliki Pappa
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Plasmablastic lymphoma (PBL) is a rare, aggressive type of B-cell non-Hodgkin lymphoma with the vast majority of patients responding poorly to treatment or progressing shortly thereafter. Cyclophosphamide-doxorubicin-vincristine-prednisolone (CHOP) or CHOP-like regimens have disappointing results in this setting. We report a case of PBL arising in a previously diagnosed myelodysplastic/myeloproliferative (MDS/MPN) with ring sideroblasts and thrombocytopenia (RS-T), HIV-negative patient treated with the combination of CHOP and bortezomib. The patient achieved complete metabolic response, which has lasted one year, longer by far than would have been expected with the sole use of CHOP.
Three Rare Structural Anomalies: Right Aberrant Subclavian Artery, Kommerell's Diverticulum, and Isolated Left Vertebral Artery All Associated with Type B Aortic Dissection
Authors: Yasser Farag Elghoneimy, Medhat Reda Nashy, Ahmed Elsayed Mahmoud, Asayel Ali Alruwaili, Assayl Rabea Alotaibi
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Introduction and background:
Right aberrant subclavian artery accounts for 0.5-1.8% of the population as the most frequently encountered aortic arch anomaly, while the prevalence of an isolated left vertebral artery ranges from 3 to 8%. Despite the low prevalence and the asymptomatic presentation of these structural anomalies, the development of cardiovascular complications and aneurysmal formation could happen as in Kommerell's diverticulum in a complicated right aberrant subclavian artery, which can undergo aneurysmal degeneration and dissection. Depending on the severity and the degree of the symptoms, the management of the patient can be determined.
Case presentation:
A 51-year-old male hypertensive Pakistani patient was admitted complaining of chest and back pain; a CT of the aorta was done and showed type B aortic dissection associated with a right aberrant subclavian artery with an isolated left vertebral artery. A thoracic endovascular aneurysmal repair was done, and the patient improved afterward.
Conclusion:
The prevalence of these structural anomalies, the right aberrant subclavian artery, Kommerell's diverticulum, and isolated left vertebral artery with type B aortic dissection, is uncommon. Therefore, the earlier the diagnosis, the better the treatment. This is the first case report explaining the occurrence of these vascular anomalies together in Saudi Arabia.
6q16.3q23.3 duplication associated with Prader-Willi-like syndrome
Authors: Laurent Desch, Nathalie Marle, Anne-Laure Mosca-Boidron, Laurence Faivre, Marie Eliade, Muriel Payet, Clemence Ragon, Julien Thevenon, Bernard Aral, Sylviane Ragot, Azarnouche Ardalan, Nabila Dhouibi, Candace Bensignor, Christel Thauvin-Robinet, Salima El Chehadeh, Patrick Callier
Journal: Mol Cytogenet (2015)
Keywords: complex ssmc, array-cgh, prader-willi-like syndrome, 6q163q233
MeSH terms: Case Reports

Background:
Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi-like syndrome (PWLS).
Case presentation:
We report a 14-year-old boy with a complex small supernumerary marker chromosome (sSMC) associated with PWLS. The propositus presents clinical features commonly found in patients with PWLS, including growth hormone deficit. Banding karyotype analysis and fluorescence in situ hybridization (FISH) revealed a marker derived from chromosome 6 and a neocentromere as suspected, but array-CGH enabled us to characterize this marker as a der(10)t(6;10)(6qter → 6q23.3::10p11.1 → 10p11.21)dn. As far as we know, this is the first diagnosed case of PWLS associated with a complex sSMC, involving a 30.9 Mb gain in the 6q16.3q23.3 region and a 3.5 Mb gain in the 10p11.21p11.1 region. Several genes have been mapped to the 6q region including the TCBA1 gene, which is associated with developmental delay and recurrent infections, the ENPP1 gene, associated with insulin resistance and susceptibility to obesity and the BMIQ3 gene, associated with body mass index (BMI). No OMIM gene was found in the smallest 10p11.21p11.1 region.
Conclusions:
We suggest that the duplicated chromosome segment 6q16.3q23.3 may be responsible for the phenotype of our case and may also be a candidate locus of PWLS.
Case Report: Complete Necrosis of a Large Adrenocortical Cancer and Liver Metastases Achieved by Selective Arterial Embolization: A Case Study and Review of Literature
Authors: Gergely Huszty, Attila Doros, Katalin Farkas, László Kóbori, Péter Reismann, Judit Tőke, Miklós Tóth, Peter Igaz
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: adrenocortical cancer, embolization, liver metastasis, necrosis, trans-arterial
MeSH terms: Adrenal Cortex Neoplasms / therapy, Adrenocortical Carcinoma / therapy, Embolization, Therapeutic / methods, Liver Neoplasms / therapy, Case Reports, Research Support, Non-U.S. Gov't, Review, Adrenal Cortex Neoplasms / blood supply, Adrenal Cortex Neoplasms / pathology, Adrenocortical Carcinoma / blood supply, Adrenocortical Carcinoma / secondary, Female, Humans, Liver Neoplasms / blood supply, Liver Neoplasms / secondary, Middle Aged, Necrosis, Treatment Outcome

There is very limited experience regarding the interventional radiological treatment of adrenocortical cancer (ACC). We present the case of a 57-year-old female patient with a large, potentially unresectable left-sided ACC and two hepatic metastases. Both liver tumors were effectively treated by trans-arterial embolization (TAE), followed by TAE of the bulky primary tumor as a life-saving intervention necessitated by severe intratumoral bleeding. Surgical removal of the primary tumor revealed complete necrosis. The patient is considered tumor free after 3.5 years. To the best of our knowledge, this is the first report to show that even a primary ACC may be completely ablated by selective embolization, and the fourth to prove the curative potential of liver TAE for ACC metastases. This case highlights the potential of selective embolization in ACC treatment.
The "3D Versascrew": An Innovative Approach for Management of Bilateral Cleft Lip and Palate Case
Authors: M V Ashith, N S Suma, K Mithun, Dhruv Ahuja
Journal: Case Rep Dent (2022)
MeSH terms: Case Reports

The purpose behind the innovation of modified nasoalveolar moulding appliance was to achieve simultaneous anteroposterior and transverse correction in bilateral cleft cases with minimal vomeroid bending. This paper presents a 3D Versascrew appliance that has been used for presurgical nasoalveolar moulding in a 15-day-old neonate with bilateral cleft. Treatment was initiated at 30 days and continued for 90 days following which mild expansion of posterior maxilla with establishment of arch continuity and concomitant improvement in nasal morphology was achieved towards the end.
Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature
Authors: Alka V Ekbote, Sumita Danda, Andreas Zankl, Kausik Mandal, Tina Maguire, Kobus Ungerer
Journal: J Clin Res Pediatr Endocrinol (2014)
MeSH terms: Abnormalities, Multiple / genetics, Contracture / genetics, Corneal Opacity / genetics, Growth Disorders / genetics, Matrix Metalloproteinase 2 / genetics, Mutation / genetics, Osteolysis / genetics, Osteoporosis / genetics, Case Reports, Review, Abnormalities, Multiple / pathology, Contracture / pathology, Corneal Opacity / pathology, Female, Follicle Stimulating Hormone / blood, Growth Disorders / pathology, Homozygote, Humans, Osteolysis / pathology, Osteoporosis / pathology, Prognosis, Review Literature as Topic, Follicle Stimulating Hormone, MMP2 protein, human, Matrix Metalloproteinase 2, Osteolysis hereditary multicentric, Winchester syndrome

Torg and Winchester syndromes and patients reported by Al-AqeelSawairi as well as nodulosis-arthropathy-osteolysis (NAO) patients, patients with multicentric NAO share autosomal recessive inheritance. The common presenting symptomatology includes progressive osteolysis chiefly affecting the carpal, tarsal and interphalangeal joints. Here, we report a patient with Torg syndrome. Torg syndrome is caused by homozygous or compound heterozygous mutations in the matrix metalloproteinase 2 (MMP2) gene. MMP2 codes for a gelatinase that cleaves type IV collagen, a major component of basement membrane. The clinical presentation of our patient included moderate osteolysis of the small joints of the hands and knees, hirsutism, nodulosis sparing the palms and soles, corneal opacities and mild facial dysmorphism without gum hypertrophy. Genetic analysis showed that the patient was homozygous for a novel base variant c538 G>A (p.D180N) in the MMP2 gene. Both parents were carriers of the same mutated variant. Our patient had some previously unreported endocrine manifestations such as premature thelarche and elevated follicle-stimulating hormone levels.
A delayed diagnosis: conflicting investigation results should be challenged
Authors: D Mital, V Desai
Journal: Case Rep Pathol (2011)
MeSH terms: Case Reports

We present a case where a diagnosis of advanced HIV led to many other diagnoses but more importantly life-threatening multivariant Castleman's disease which is rare and was successfully treated. This case highlights the importance of questioning and challenging investigations when it does not fit with the clinical picture. Multidisciplinary teams are crucial and always seek expert advice if unsure. The much-quoted adage of "many symptoms and signs will fit one diagnosis" also bodes well in this case.
Monogenic diabetes secondary to congenital lipodystrophy in a 14-year-old Yemeni girl
Authors: Todd Roth, Sri Nair, Anıl Kumar
Journal: J Clin Res Pediatr Endocrinol (2010)
Keywords: berardinelli−seip congenital lipodystrophy type 2, congenital generalized lipodystrophy, insulin resistance, leptin, monogenic diabetes
MeSH terms: Diabetes Mellitus, Type 1 / etiology, Lipodystrophy, Congenital Generalized / complications, Case Reports, Adolescent, Antihypertensive Agents / therapeutic use, Child, Consanguinity, Diabetes Mellitus, Type 1 / drug therapy, Female, Humans, Hypertension / etiology, Insulin Resistance, Antihypertensive Agents

A 14-year-old female from Yemen presented with intense abdominal pain and headache. She was born at term to distant cousins, developmentally delayed and significantly dysmorphic. Four years ago, she was diagnosed with diabetes mellitus and undiagnosed hepatic, cardiac, genetic, neurologic, endocrine, musculoskeletal, and gastrointestinal disorders. No therapy was prescribed. Admission laboratory data showed blood glucose = 391 mg/dl, hemoglobin A1c= 12.2%, C-peptide = 3.5 ng/ml, insulin = 6.8 uIU/ml, triglyceride =385 mg/dl, and serum leptin <0.5 ng/ml, (1.1-27.5). Chromosome analysis (46, XX) was normal and serology for Glutamic acid Decarboxylase (GAD), hepatitis and HIV were negative. Clinical examination and laboratory data suggested congenital generalized lipodystrophy (CGL, type BSCL-2). This case illustrates that CGL should be in the differential diagnosis for non-obese patients with diabetes and insulin resistance.
Early hepatoid adenocarcinoma of the stomach with signet ring cell carcinoma: A case report and clinicopathological features
Authors: Xinglong Wu, Lianjun Di, Chengfang Li, Suyuan Zhang, Na Tan, Jiajia Huang, Biguang Tuo
Journal: Front Oncol (2023)
Keywords: case report, clinicopathological feature, hepatoid adenocarcinoma, signet ring cell carcinoma, stomach
MeSH terms: Case Reports

Background:
Hepatoid adenocarcinoma of the stomach (HAS) is a rare subtype of gastric cancer with poor prognosis, and its clinicopathological features are not well understood, so the pathology from the clinical biopsy is easily misdiagnosed, especially for special or atypical HAS. We present an extremely rare early HAS with signet ring cell carcinoma and evaluate its clinicopathological features.
Case presentation:
A 51-year-old female patient of Chinese Han ethnicity with upper abdominal pain for 5 years and worsened abdominal pain for 1 month was admitted to our hospital. Esophagogastroduodenoscopy showed a submucosal tumor-like elevated lesion with central depression in the greater curvature of the junction between the antrum and body. Histopathological examination from the biopsy revealed medium-low-differentiation adenocarcinoma with signet ring cell carcinoma. Radical gastrectomy was performed, and the final diagnosis was early HAS with signet ring cell carcinoma.
Conclusions:
HAS with signet ring cell carcinoma is a special type of HAS and extremely rare. It is first presented for this extremely rare type of HAS, which contributes to strengthen the understanding for the clinicopathological characteristics of HAS and especially promote early detection of HAS.
Incidentally Diagnosed Alport Syndrome in a Patient with Drug-Induced Vasculitis
Authors: D Lai, N Dave, R Raghavan
Journal: Case Rep Nephrol (2019)
MeSH terms: Case Reports

A 53-year-old woman is admitted with a serum creatinine of 16 mg/dl. Seven months earlier, she was diagnosed with heart failure and started on several medications, including Hydralazine. Laboratory studies revealed the presence of dual Anti-Neutrophil Cytoplasmic Antibodies (anti-MPO and anti-PR3), anti-nuclear and anti-histone antibodies. The clinical diagnosis was Drug-Induced ANCA Vasculitis (DIAV). Kidney histology, however, did not reveal crescents, but showed characteristic features of Alport's syndrome.
Reconstruction of metatarsal bone after giant cell tumor resection with no vascularized fibular graft in a pediatric patient: Case report and review of literature
Authors: M Florio, S Careri, C Zoccali, A G Aulisa, F Falciglia, R M Toniolo, M Giordano
Journal: Front Pediatr (2022)
Keywords: en-bloc resection, foot tumors, metacarpal replacement, non-vascularized fibular graft, pediatric giant cell tumor
MeSH terms: Case Reports

The Giant Cell tumor (GCT) is a benign, locally aggressive lesion that cause bone destruction and shows a malignant potential. It is a relatively common skeletal tumor that is therefore typically seen in young adults. Few cases are described in literature of GCT in the immature skeleton, and the metatarsal is an unusual location for a primary bone GCT, especially in pediatric age. Therefore, there are very few data reported regarding the management protocol of GCT in metatarsal bones. We report a case about the use of no vascularized fibular graft for an original Y-shaped reconstruction of the metatarsal bone after Giant Cell Tumor resection in a 9 years-old patient, and performed a literature review about metatarsal bone reconstruction in skeletally immature patient.