OpenMed/multicare-articles huggingface dataset:
Relapse of rare diseases during COVID-19 pandemic: bicytopenia in an adult patient with thiamine-responsive megaloblastic anaemia
Authors: Nourelhouda Nouira, Rawdha Mansouri, Rami Tlili, Ines Bhouri, Souha Sfaxi, Dorra Chtourou, Maamoun Ben Cheikh
Journal: Pan Afr Med J (2020)
Keywords: covid-19 pandemic, thiamine, diabetes, genetics, megaloblastic anaemia
MeSH terms: Anemia, Megaloblastic / blood, Betacoronavirus, Coronavirus Infections / epidemiology, Diabetes Mellitus / blood, Hearing Loss, Sensorineural / blood, Pandemics, Pneumonia, Viral / epidemiology, Thiamine Deficiency / congenital, Thrombocytopenia / etiology, Case Reports, Acute Coronary Syndrome / diagnosis, Anemia, Megaloblastic / drug therapy, Anemia, Megaloblastic / physiopathology, COVID-19, Chest Pain / etiology, Diabetes Mellitus / drug therapy, Diabetes Mellitus / physiopathology, Diagnosis, Differential, Glycated Hemoglobin / analysis, Health Services Accessibility, Hearing Loss, Sensorineural / drug therapy, Hearing Loss, Sensorineural / physiopathology, Hemoglobins / analysis, Humans, Male, Pericardial Effusion / diagnostic imaging, Pericardial Effusion / etiology, Recurrence, SARS-CoV-2, Thiamine / supply & distribution, Thiamine / therapeutic use, Thiamine Deficiency / blood, Thiamine Deficiency / drug therapy, Thiamine Deficiency / physiopathology, Tunisia, Young Adult, Glycated Hemoglobin A, Hemoglobins, Thiamine, Thiamine responsive megaloblastic anemia syndrome

Thiamine-responsive megaloblastic anaemia (TRMA) is a syndrome associated with megaloblastic anaemia, diabetes mellitus and sensorineural deafness, due to mutations in the SLC19A2gene, which codes for a thiamine carrier protein. Oral thiamine supplementation is the main treatment. We report the case of a 19-year-old man known for TRMA, who presented in the emergency department with bicytopenia (haemoglobin 5,4 g/dL, thrombocytes 38×109/L) revealed by dyspnea and chest pain. Investigations excluded bleeding, hemolysis, coagulopathy and iron deficiencies. A recent infection and an acute coronary syndrome have also been eliminated. We later found out that thiamine treatment had been discontinued three months before, due to general confinement in Tunisia during the COVID-19 pandemic. Parenteral administration of 100 mg of thiamine daily resulted in the recovery of haematopoiesis within three weeks.
Potential and limitations of applying the mean temperature approach to fossil otolith assemblages
Authors: Konstantina Agiadi, Rafał Nawrot, Paolo G Albano, Efterpi Koskeridou, Martin Zuschin
Journal: Environ Biol Fishes (2022)
Keywords: baselines, climate change, conservation paleobiology, fossil, historical ecology, mean temperature of the catch

Evaluation of the impact of climatic changes on the composition of fish assemblages requires quantitative measures that can be compared across space and time. In this respect, the mean temperature of the catch (MTC) approach has been proven to be a very useful tool for monitoring the effect of climate change on fisheries catch. Lack of baseline data and deep-time analogues, however, prevent a more comprehensive evaluation. In this study, we explore the applicability of the mean temperature approach to fossil fish faunas by using otolith assemblage data from the eastern Mediterranean and the northern Adriatic coastal environments corresponding to the last 8000 years (Holocene) and the interval 2.58-1.80 Ma B. P. (Early Pleistocene). The calculated mean temperatures of the otolith assemblage (MTO) range from 13.5 to 17.3 °C. This case study shows that the MTO can successfully capture compositional shifts in marine fish faunas based on variations in their climatic affinity driven by regional climate differences. However, the index is sensitive to methodological choices and thus requires standardized sampling. Even though theoretical and methodological issues prevent direct comparisons between MTO and MTC values, the MTO offers a useful quantitative proxy for reconstructing spatial and temporal trends in the biogeographic affinity of fossil otolith assemblages.
Functional Adrenocortical Adenoma in a Child with Beckwith-Wiedemann Syndrome
Authors: Leen Jamel Doya, Naya Talal Hassan, Hanin Ahmed Mansour, Mohammad Ahmad Almahmod Alkhalil, Abdul Alrahman Almahmod Alkhalil, Nada Mansour, Alaa Abdallah
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Beckwith-Wiedemann syndrome (BWS) is a rare congenital condition characterized by complex overgrowth of different body parts. Children with Beckwith-Wiedemann syndrome, particularly those with hemihypertrophy, experience an increased risk of developing benign and malignant tumors. This case report presents an 18-month-old girl with features suggestive of Beckwith-Wiedemann syndrome who developed pubic hair, high levels of testosterone, and DHEAS with normal cortisol and progesterone levels. Computed tomography revealed a left adrenal mass. Histopathological examination of the resected mass showed an adrenocortical tumor. Her postoperative evaluation showed normal testosterone and DHEAS levels. Early diagnosis and detection of intra-abdominal neoplasms in infants with Beckwith-Wiedemann syndrome are essential to avoid serious clinical complications.
Mercury Vapour Long-Lasting Exposure: Lymphocyte Muscarinic Receptors as Neurochemical Markers of Accidental Intoxication
Authors: E Roda, A Giampreti, S Vecchio, P Apostoli, T Coccini
Journal: Case Rep Med (2016)

Introduction. Chronic poisoning may result in home setting after mercury (Hg) vapours inhalation from damaged devices. We report a chronic, nonoccupational Hg poisoning due to 10-year indoor exposure to mercury spillage. Case Report. A 72-year-old man with polyneuropathy of suspected toxic origin. At hospitalization, toxicological clinical evaluations confirmed the altered neurological picture documented across the last decade. Periodic blood and urine Hg levels (BHg, UHg) monitoring were performed from admission (t0), until 1 year later (t2), paralleled by blood neurochemical markers assessment, that is, lymphocytes muscarinic receptors (l-MRs). At t0: BHg and UHg were 27 and 1.4 microg/L, respectively (normal values: BHg 1-4.5; UHg 0.1-4.5), associated with l-MRs increase, 185.82 femtomoL/million lymphocytes (normal range: 8.0-16.0). At t1 (two days after DMSA-mobilization test), BHg weak reduction, paralleled by UHg 3.7-fold increase, was measured together with further l-MRs enhancement (205.43 femtomoL/million lymphocytes). At t2 (eight months after two cycles of DMSA chelating therapy ending), gradual improving of clinical manifestations was accompanied by progressive decrease of BHg and UHg (4.0 and 2.8 microg/L, resp.) and peripheral l-MRs neurochemical marker (24.89 femtomoL/million lymphocytes). Conclusion. l-MRs modulatory effect supports their use as peripheral neurochemical marker in Hg poisoning diagnosis and chelation therapy monitoring.
Unusual noncommunicating isolated enteric duplication cyst in adults
Authors: Metehan Gümüş, Murat Kapan, Hatice Gümüş, Akin Onder, Sadullah Girgin
Journal: Gastroenterol Res Pract (2011)
MeSH terms: Case Reports

Duplication cysts are rare gastrointestinal congenital abnormalities and can occur anywhere within the gastrointestinal tract. Duplication cysts are firmly attached to or share the wall of the alimentary tract and have a common blood supply with the adjacent segment of the bowel. Completely isolated duplication cysts are an extremely rare variety of gastrointestinal duplications with their own exclusive blood supply, and they do not communicate with the intestine. These cysts are usually diagnosed during early childhood, and very rarely detected in adults, mostly incidentally, due to a lack of symptoms. A 28-year-old male was admitted to our hospital with a chief complaint of lower abdominal pain and distention and a palpable mass for 1 month. Based upon computed tomography and sonographic findings, a small bowel duplication cyst was tentatively diagnosed. The cyst had no connection to the gastrointestinal tract. Herein we report the case of a noncommunicating isolated ileal duplication cyst in an adult. Resection of the cyst was performed safely without requiring bowel resection.
Colonic gastrointestinal stromal tumour presenting as intussusception
Authors: Simmi K Ratan, Garima Goel, Parul Sobti, Nita Khurana, Mohit Mathur, Shandip K Sinha, Satish K Aggarwal
Journal: APSP J Case Rep (2013)
Keywords: child, colonic intussusception, gastrointestinal stromal tumour
MeSH terms: Case Reports

Gastrointestinal stromal tumours (GIST) are rare in paediatric patients and have a discrete clinicopathological and molecular divergence from that observed in adults. In the present report we present a case of a 2-month-old female in whom colonic gastrointestinal stromal tumour acted as a lead point of colocolic intussusception. Laparoscopically assisted reduction of the intussusception and resection of tumour was done.
Clinicohistopathological Characteristics of Malignant Melanoma in the Gall Bladder: A Case Report and Review of the Literature
Authors: Schmidt Adrian, Caspar Clemens, Schmidt-Weiss Elisabeth, Stadlmann Sylvia
Journal: Case Rep Pathol (2018)
MeSH terms: Case Reports

Objective:
Primary gall bladder melanoma is a rare and controversial entity. So far, only 36 cases are documented in the literature. Metastatic melanoma targeting the gall bladder, however, has been reported to occur in about 15-20% of melanoma patients and is much more common.
Methods:
Based on the case of a 58-year-old woman presenting with multiple melanoma nodules in the gall bladder, we searched in the available literature in PubMed for articles describing a "primary melanoma of the gallbladder" regardless of language used.
Results:
We detected 33 papers that described 36 cases of primary gall bladder melanoma between 1907 and 2017. From different criteria distinguishing primary and secondary gall bladder melanoma, generally, the following were accepted: (1) exclusion of previous primary melanoma, (2) absence of synchronous involvement of other sites, (3) unicity of the lesion, (4) polypoid or papillary shape of the lesion, and (5) presence of junctional melanocitary component. Review of the 36 published cases revealed that only about one-fourth of them fulfilled all the five criteria.
Conclusion:
Primary gall bladder melanoma is even rarer than described in the literature, and the question whether this entity really exists remains open.
"A child's nightmare. Mum comes and comforts her child." Attachment evaluation as a guide in the assessment and treatment in a clinical case study
Authors: Silvia Salcuni, Daniela Di Riso, Adriana Lis
Journal: Front Psychol (2014)
Keywords: assessment, attachment, clinical case study, outcome research, psychodynamic supportive therapy

There is a gap between proposed theoretical attachment theory frameworks, measures of attachment in the assessment phase and their relationship with changes in outcome after a psychodynamic oriented psychotherapy. Based on a clinical case study of a young woman with Panic Attack Disorder, this paper examined psychotherapy outcome findings comparing initial and post-treatment assessments, according to the mental functioning in S and M-axis of the psychodynamic diagnostic manual. Treatment planning and post-treatment changes were described with the main aim to illustrate from a clinical point of view why a psycho-dynamic approach, with specific attention to an "attachment theory stance," was considered the treatment of choice for this patient. The Symptom Check List 90 Revised (SCL-90-R) and the Shedler-Westen Assessment Procedure (SWAP-200) were administered to detect patient's symptomatic perception and clinician's diagnostic points of view, respectively; the Adult Attachment Interview and the Adult Attachment Projective Picture System (AAP) were also administered as to pay attention to patient's unconscious internal organization and changes in defense processes. A qualitative description of how the treatment unfolded was included. Findings highlight the important contribution of attachment theory in a 22-month psychodynamic psychotherapy framework, promoting resolution of patient's symptoms and adjustment.
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay
Authors: Charalampos Tzoulis, Stefan Johansson, Bjørn Ivar Haukanes, Helge Boman, Per Morten Knappskog, Laurence A Bindoff
Journal: PLoS One (2013)
MeSH terms: Genes, Recessive, Heat-Shock Proteins / genetics, Muscle Spasticity / genetics, Mutation, Spinocerebellar Ataxias / congenital, Case Reports, Research Support, Non-U.S. Gov't, Aged, Amino Acid Sequence, Brain / pathology, Exome, Family, Female, Heterozygote, High-Throughput Nucleotide Sequencing, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Molecular Sequence Data, Muscle Spasticity / diagnosis, Norway, Sequence Alignment, Spinocerebellar Ataxias / diagnosis, Spinocerebellar Ataxias / genetics, Heat-Shock Proteins, SACS protein, human, Spastic ataxia Charlevoix-Saguenay type

We employed whole exome sequencing to investigate three Norwegian siblings with an autosomal recessive spastic ataxia and epilepsy. All patients were compound heterozygous (c.13352T>C, p.Leu4451Pro; c.6890T>G, p.Leu2297Trp) for mutations in the SACS gene establishing the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The clinical features shown by our patients were typical of this disorder with the exception of epilepsy, which is a rare manifestation. This is the first report of ARSACS in Scandinavian patients and our findings expand the genetic and clinical spectrum of this rare disorder. Moreover, we show that exome sequencing is a powerful and cost-effective tool for the diagnosis of genetically heterogeneous disorders such as the hereditary ataxias.
NMDAR Encephalitis Associated With Acute Chikungunya Virus Infection: A New Trigger?
Authors: Paulo Ribeiro Nóbrega, Norma Martins de Menezes Morais, Pedro Braga-Neto, Liziana Sofia da Silva Barros, Fernanda Paiva Pereira Honório, Alessandra Dellavance, Romana Hoftberger, Lívia Almeida Dutra
Journal: Front Pediatr (2020)
Keywords: arboviral diseases, chikungunya, anti-nmdar, autoimmune, encephalitis
MeSH terms: Case Reports

Background: Anti-NMDAR encephalitis is the most frequent cause of autoimmune encephalitis. Chikungunya (CHIK) is an arbovirus responsible for outbreaks of fever, cutaneous rash and arthritis in underdeveloped countries, and a trigger for autoimmunity. Case Presentation: We report a five-year-old male patient with fever, myalgia, headache and conjunctivitis for 5 days. After 1 week he developed tonic-clonic seizures and evolved with dystonia and oromandibular dyskinesia followed by onset of focal motor seizures, decreased level of consciousness, dysautonomia and central apnea. Brain MRI was normal, CSF analysis revealed 15 cells, protein 16.6 mg/dL and glucose 68 mg/dL. Anti-NMDAR antibodies were detected in serum and CSF after 3 weeks of symptom onset. CHIK serology was positive for both IgM and IgG, suggesting a recent infection. Dengue and Zika serologies were negative. CSF PCR for herpes viruses and arboviruses (CHIK, Dengue and Zika) were negative. Conclusion: We report the occurrence of anti-NMDAR encephalitis after acute CHIK infection. The biphasic course, positivity for both CHIK IgM and IgG and negative CHIK CSF PCR results, as well as a dramatic response to immunotherapy suggest an immune-mediated pathogenesis. Because of the global epidemic of CHIK infection and unknown mechanisms involving CHIK and autoimmunity, patients with acute CHIK infections and neurological manifestations should be considered for antineuronal antibody testing.
Progressive Intramuscular Haematoma in a 12-Year-Old Boy: A Case of Acquired Haemophilia A
Authors: Manori Gamage, Sadeepa Weerasinghe, Mohamed Nasoor, A M P W Karunarathne, Sashi Praba Abeyrathne
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Acquired hemophilia A (AHA) is a rare bleeding disorder due to acquired antibodies against coagulation factor VIII (FVIII). It is rare in children less than 16 years old, and the incidence is 0.45/million/year. An otherwise healthy, 12-year-old boy was admitted to the ward with a history of swelling of the right and left forearms, for 1 day duration. He did not have any history of trauma or bleeding disorder. He had prolonged APPTT level with very high antibody titer against factor VIII. His gene expression for factor VIII was found to be normal. He was managed with FEIBA and recombinant FVII activated complexes and prednisolone 1 m/kg/day regime to control bleeding. AHA is associated with several underlying pathologies such as pregnancy, autoimmune diseases, malignancy, medications and infections; however, up to 50% of reported cases are idiopathic. In contrast to congenital haemophilia A, in which haemarthrosis is the hallmark clinical presentation, patients with AHA mainly bleed in to the skin, muscles, and soft tissues. High mortality rate of more than 20% is either to retroperitoneal or intracranial bleeds. Diagnosis is confirmed on isolated prolongation of activated partial thromboplastin time which does not normalize after addition of normal plasma, reducing the factor VIII levels with evidence of FVIII inhibitor activity. They have normal prothrombin time and platelet functions. Management of AHA involves two aspects, namely, eradication of antibodies and maintaining effective haemostasis during a bleeding episode.
Posterior bi-parietal decompressive craniectomy in refractory intracranial hypertension secondary to civilian gunshot wound. Case report and review of literature
Authors: Guillermo Axayacalt Gutierrez-Aceves, Antonio Sosa-Najera, Alejandro Ceja-Espinosa, Jose Alfonso Franco Jimenez, Martinez-Maldonado Horus, Gabriel Ibarra-Trujillo, Carlos Tevera-Ovando, Diana Melani Saucillo-Lopez
Journal: Int J Surg Case Rep (2018)
Keywords: biparietal craniectomy, intracranial hypertension, traumatic brain injury

Background:
Decompressive craniectomy is recommended as second tier therapy for unresponsive intracranial hypertension in Traumatic Brain Injury. There have been reports of a Bi-Occipital craniectomy in cases where the focal injury is posterior.
Case description:
The work has been reported in line with the SCARE criteria. There is a 56-year-old male with Traumatic brain injury secondary to gunshot and intracranial hypertension, managed with biparietal craniectomy, after place a intracranial pressure monitor, whit good response to surgical and medical treatment, even with good outcome after hospitalization.
Conclusions:
In selected cases a posterior bi-parietal craniectomy can be performed in a safe way with acceptable results to treat refractory Intracranial hypertension. We propose that this neurosurgical technique can be used in patients with posterior focal injuries.
"Mega" Cisterna Chyli: A Case Report and Review of the Literature
Authors: Raghav Chandra, Thomas Murphy, Kirk G Jordan, John K Waters, Scott I Reznik
Journal: Cureus (2023)
Keywords: cisterna chyli, computerized tomography, lymphangiography, magnetic resonance imaging, thoracic duct
MeSH terms: Case Reports

Enlarged cisterna chyli is an infrequently encountered entity and is most often an asymptomatic, incidental finding on imaging for other reasons. The pathogenesis of cisterna chyli enlargement is not well elucidated and includes infectious, inflammatory, and idiopathic causes. In this report, we present the rare case of an asymptomatic, markedly dilated "mega" cisterna chyli in a 60-year-old female.
Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review
Authors: Xuan Zhang, Zhaoyang Huang, Jianghong Liu, Mingyu Li, Xiaoling Zhao, Jing Ye, Yuping Wang
Journal: Front Neurol (2021)
Keywords: depdc5, family focal epilepsy, genotype, penetrance, phenotype, refractory epilepsy
MeSH terms: Case Reports

Mutations in the disheveled, Egl-10 and domain-containing protein 5 (DEPDC5) recently have been identified as a common cause of focal epilepsy syndromes. The association between phenotype and genotype of DEPDC5 mutation has not been adequately characterized. We studied four families with familial focal epilepsy carrying DEPDC5 mutations. Four novel DEPDC5 mutations were identified by next-generation sequencing, including two missense mutations (c.1729 >A and c.3260G>A), one splicing mutation (c.280-1G>A), and one frameshift mutation (c.515_516delinsT). We found that patients carrying different DEPDC5 mutation have different clinical manifestations. Incomplete penetrance is a prominent feature of DEPDC5-related epilepsy, with the rate of penetrance ranging from 25 to 100%. About 21.4% of patients with DEPDC5-related familial focal epilepsy are refractory to treatments. We further reviewed the correlation of genotype and phenotype in all previous literature regarding DEPDC5-related epilepsy. Our study suggested that the type of DEPDC5 mutation might provide important information for the prognosis evaluation.
Clinical and Radiological Characterization of an Infant with Caudal Regression Syndrome Type III
Authors: Kavinda Dayasiri, V Thadchanamoorthy, Kaushika Thudugala, Aruni Ranaweera, N Parthipan
Journal: Case Rep Neurol Med (2020)
MeSH terms: Case Reports

Caudal regression syndrome is a rare disorder of developmental failure of lumbosacral vertebra and corresponding spinal cord during notochord formation. The severity varies from absent coccyx to complete absence of lumbosacral vertebra and caudal spinal cord. Both genetic and environmental factors are believed to play roles in aetiopathogenesis of caudal regression. The authors report a two-month-old child born to a diabetic mother, in whom the diagnosis of caudal regression syndrome type III was confirmed based on clinical and radiological characteristics. The child was managed by the multidisciplinary team to continue supportive care and screen and monitor for long-term complications. The long-term prognosis for mobility was less favourable given the presence of bilateral hip dysplasia and involvement of lumbar vertebra in addition to sacral agenesis.
Vaginal metastasis from breast cancer: A case report
Authors: Yunbo Yan, Tianjiao Guo, Minmei Zhang, Guozhong Cui
Journal: Open Life Sci (2023)
Keywords: bevacizumab, breast cancer, eribulin, histopathological examination, vaginal metastases
MeSH terms: Case Reports

Breast cancer is one of the most common malignancies in women. However, cases of vaginal metastases of breast cancer are rarely reported in China and abroad. The main clinical symptom of vaginal metastases of breast cancer is vaginal bleeding. This article aims to provide a reference for the diagnosis and clinical management of vaginal metastases from breast cancer. This article describes in detail the management of a 50-year-old woman with vaginal metastases from breast cancer, who was admitted to the hospital with persistent vaginal bleeding without apparent causes. Persistent vaginal bleeding was found after two and a half years when her breast cancer surgery was performed. After comprehensive evaluation, vaginal mass resection was performed. Postoperative histopathology confirmed that the vaginal mass was breast cancer metastasis. The patient was treated with local radiotherapy and three cycles of eribulin and bevacizumab after the vaginal mass was removed. A reexamination of computed tomography showed that the chest wall metastases were less extensive than before. Orbital metastases were also reduced in size, which was revealed by the physical examination. The patient had since failed to return to hospital on time for a regular treatment due to personal reasons. After 9 months of follow-up, the patient died of multiple metastases. The diagnosis of vaginal masses is based on pathological examination, and systemic treatment should be the mainstay when extensive metastases are presented.