OpenMed/multicare-articles huggingface dataset:
Unruptured rudimentary horn pregnancy presenting with acute haemoperitoneum with combined intrauterine pregnancy: A case report
Authors: Meenakshi Lallar, Rajesh Nandal, Deepak Sharma
Journal: Iran J Reprod Med (2015)
Keywords: cornual heterotopic pregnancy, haemoperitoneum, maternal mortality, neonatal mortality
MeSH terms: Case Reports

Background:
The incidence of rudimentary heterotopic uterine horn pregnancy varies from 1:76,000 to 1:140,000. However the incidence of twin pregnancy i.e. intrauterine pregnancy in unicornuate uterus and its associated rudimentary horn pregnancy is estimated to be around 1 in 10 million gestations.
Case:
Here, we present 19 year old pramigravida women with acute haemoperitoneum with diagnosis of unruptured rudimentary horn pregnancy combined by intrauterine pregnancy. The patient was managed with emergency laparatomy and resuscitation. Rudimentary horn containing foetus was excised and intrauterine pregnancy was left untouched. The intrauterine pregnancy was supported with progesterone and tocolytics and the patient delivered a newborn of 2.8 kg through spontaneous labor at 37 weeks of gestation.
Conclusion:
Heterotopic pregnancies incidence have increased in comparison to past and there should be high level of suspicion for this rare event as this is often associated with high maternal and fetal morbidity and mortality where diagnosis is difficult and challenging and easily missed. . Timely intervention provides survival of intrauterine pregnancy in case of twin pregnancy, even in low resource settings where usually the diagnosis is missed before acute event.
Congenital melanocytic nevi with primary cerebral melanoma: a rarity
Authors: Xin Chen, Jing Zhimao, Hong Yuzhuo, Guang Peng, Xin Wu, Yi Feng, Feng Wang
Journal: APSP J Case Rep (2013)
Keywords: congenital melanocytic nevi, intracranial melanoma, primary melanoma
MeSH terms: Case Reports

A16-year-old male was admitted in hospital because of frontal and temporal melanoma. There were congenital giant nevi on his back and head. Positron emission computed tomography revealed no extra-cranial primary lesion. He underwent surgery, whole-brain radiotherapy (WBRT), and chemotherapy; but he could not be saved and died 6 months after establishing diagnosis.
Ketosis-Prone Type 2 Diabetes: A Case Series
Authors: Åke Sjöholm
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: flatbush diabetes, glp-1–glucagon-like peptide-1, sglt 2 inhibitor, atypical diabetes, ketosis
MeSH terms: Case Reports

Ketosis-prone type 2 diabetes ("Flatbush diabetes") carries features of both classical type 1 and type 2 diabetes and is highly prevalent in African populations. The disease, which is highly ketosis-prone, but neither chronically insulinopenic nor autoimmune, is discussed regarding pathogenesis, diagnosis and treatment from a patient case perspective.
Voluminous Myoepithelioma of the Minor Salivary Glands Involving the Base of the Tongue
Authors: Mario Policarpo, Valentina Longoni, Pietro Garofalo, Paolo Spina, Francesco Pia
Journal: Case Rep Otolaryngol (2016)

Myoepithelioma is an extremely rare tumour subtype and diagnosis is based on a wide variation of cellular morphology. FNAC specimens do not always suffice for a definitive differential diagnosis which depends on histology and immunohistochemistry of the lesion. Case Presentation. A 54-year-old female came to our attention with dysphagia and dyslalia of 6-month standing. Ear, Nose, and Throat (ENT) examination revealed a voluminous mass on the right portion of the base of her tongue, where postcontrast T2-weighted Magnetic Resonance Imaging (MRI) evidenced a hyperintense lesion. The fine-needle aspiration specimen taken for cytology was not diagnostic, as a differential diagnosis between myoepithelioma and a malignant neoplasm of the salivary glands necessitates parameters that cytology alone cannot provide. Therefore, the whole lesion was excised by diode laser through a transoral approach. Histology and immunohistochemistry of the completely excised lesion confirmed a myoepithelioma.
Case Report: A rare cause of oral bullae: Angina bullosa hemorrhagica
Authors: Salih Levent Cinar, Demet Kartal, Özlem Canöz, Murat Borlu, Ayten Ferahbas
Journal: F1000Res (2017)
Keywords: angina bullosa hemorrhagica, blister, oral mucosa

Angina bullosa hemorrhagica (ABH) is a benign disorder of the oral cavity. Clinically, oral, blood-filled blisters are seen. To give a proper diagnosis, one should rule out any other cause. We aim to present this case in order to emphasize this rare cause of oral bullae which is necessary to be differentiated from many serious dermatological and hematological disorders.
Monostotic fibrous dysplasia of the rib: a case report
Authors: Asha Mahadevappa, Sapna Patel, Sunila Ravishankar, Gubbanna V Manjunath
Journal: Case Rep Orthop (2012)

Fibrous dysplasia is a noninherited bone disease in which abnormal differentiation of osteoblasts leads to replacement of normal marrow and cancellous bone by immature bone with fibrous stroma. Monostotic fibrous dysplasia accounts for 28% in the ribs. It is often asymptomatic and incidentally detected on radiographs. As with many bone abnormalities, it can be superimposed by the formation of aneurysmal bone cysts. We report a case of a 70-year-old lady who presented with swelling on the chest wall of 20-ear duration and sudden increase in size for 8 months. Radiologically, X-ray and CT scan showed an expansible lesion of the medullary cavity with a ground-glass centre and thinning of cortex of the 5th rib. The resected lesion was a firm, well-defined solid, grey-white expansile mass replacing the medullary cavity. Histopathologically, benign fibrous spindle areas with disorganized irregular bony trabeculae were seen. Hemorrhagic spaces lined by osteoclast-like multinucleated giant cells were also noted. The diagnosis was fibrous dysplasia with aneurysmal bone cyst changes. Although fibrous dysplasia with aneurysmal bone cyst is rare, it should be taken into account in differential diagnosis of the rapidly growing solitary rib lesion.
A rare cause of gastrointestinal bleeding in adults: Ileal duplication with ulceration: A case report and review of literature
Authors: Lingli Li, Hongping Li, Xiaoyan Chen, Jin Yao, Rui Xie, Hong Wang
Journal: Front Surg (2022)
Keywords: alimentary tract duplication, double-balloon enteroscopy (dbe), gastrointestinal bleeding, ileal duplication, surgery, ulcer
MeSH terms: Case Reports

The ileal duplication, which is a congenital anatomical abnormality of the digestive tract, can lead to the manifestation of the alimentary tract duplication in the small intestine. It is also the rare cause of gastrointestinal bleeding and usually seen in infants, but only rarely in adults. Herein, we describe a case of adult male was suffering from intermittent massive hematochezia for three years, accompanied by abdominal pain, syncope, and palpitations. However, no positive findings were found by gastroscopy and colonoscopy in other hospitals. He visited our hospital owing to the recurrent hematochezia, but re-examination by gastroscopy and colonoscopy indicated no significant abnormality, and hence small intestinal vascular malformation bleeding was considered. Therefore, double-balloon enteroscopy (DBE) examination was conducted and the results revealed a double-lumen opening in the ileum, which was 100 cm from the ileocecal valve. The blind end was observed 6 cm away from one opening along the depth direction, and an ulcer was observed on the intestinal wall of the blind segment, which was considered as an ileal duplication. The patient thereafter underwent surgery subsequently. Postoperative pathology confirmed ileal duplication and that gastrointestinal bleeding was primarily caused by ulcer hemorrhage. The patient had no discomfort after the follow-up. In this report, we have reviewed and summarized the literature to provide references for both diagnosis and treatment of ileal duplication.
Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance
Authors: Tanguy Demaret, René Wintjens, Gwenaelle Sana, Joachim Docquir, Frederic Bertin, Christophe Ide, Olivier Monestier, Deniz Karadurmus, Valerie Benoit, Isabelle Maystadt
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: albright hereditary osteodystrophy, gnas, pth1r, alfacalcidol, epilepsy, ippsd1, parathyroid hormone, pseudohypoparathyreoidism
MeSH terms: Hyperphosphatemia, Hypocalcemia / complications, Pseudohypoparathyroidism / diagnosis, Pseudohypoparathyroidism / genetics, Case Reports, Research Support, Non-U.S. Gov't, Humans, Parathyroid Hormone / metabolism, Parathyroid Hormone-Related Protein, Parathyroid Hormone, Parathyroid Hormone-Related Protein

PTH resistance is characterized by elevated parathyroid hormone (PTH) levels, hypocalcemia, hyperphosphatemia and it is classically associated with GNAS locus genetic or epigenetic defects. Inactivating PTH/PTHrP signaling disorders (iPPSD) define overlapping phenotypes based on their molecular etiology. iPPSD1 is associated with PTH1R variants and variable phenotypes including ossification anomalies and primary failure of tooth eruption but no endocrine disorder. Here we report on a 10-month-old child born from consanguineous parents, who presented with mild neurodevelopmental delay, seizures, enlarged fontanelles, round face, and bilateral clinodactyly. Hand x-rays showed diffuse delayed bone age, osteopenia, short metacarpal bones and cone-shaped distal phalanges. A diagnosis of PTH resistance was made on the basis of severe hypocalcemia, hyperphosphatemia, elevated PTH and normal vitamin D levels on blood sample. The patient was treated with calcium carbonate and alfacalcidol leading to rapid bio-clinical improvement. Follow-up revealed multiple agenesis of primary teeth and delayed teeth eruption, as well as Arnold-Chiari type 1 malformation requiring a ventriculoperitoneal shunt placement. GNAS gene analysis showed no pathogenic variation, but a likely pathogenic homozygous substitution c.723C>G p.(Asp241Glu) in PTH1R gene was found by trio-based whole exome sequencing. We studied the deleterious impact of the variant on the protein conformation with bioinformatics tools. In conclusion, our study reports for the first time PTH resistance in a child with a biallelic PTH1R mutation, extending thereby the clinical spectrum of iPPSD1 phenotypes.
Discordant twins with the smaller baby appropriate for gestational age--unusual manifestation of superfoetation: a case report
Authors: Noopur Baijal, Mohit Sahni, Neeraj Verma, Amit Kumar, Nittin Parkhe, Jacob M Puliyel
Journal: BMC Pediatr (2007)
MeSH terms: Superfetation, Case Reports, Adult, Age Determination by Skeleton, Age Determination by Teeth, Female, Gestational Age, Humans, Infant, Newborn, Neurologic Examination, Pregnancy, Twins, Dizygotic, Ultrasonography, Prenatal

Background:
Documentation of superfoetation is extremely rare in humans., The younger foetus has invariably been small for gestational age (estimated from the date of the last menstrual bleed) in all the cases reported in the literature. We report a case where the younger twin was of appropriate size for gestation.
Case presentation:
The first of twins was of 32 weeks gestation and the baby was of appropriate size and development for the gestational age. The second twin was of 36 weeks gestation. Gestational age was estimated with the New Ballard score, x-ray of the lower limbs, dental age on x-ray, and ophthalmic examination.
Conclusion:
Bleeding on implantation of the first foetus probably helped demarcate the two pregnancies. Dental age and the New Ballard score can be used to diagnose superfoetation in discordant twins, when detailed first trimester ultra-sound data is not available.
Squamous cell carcinoma with sarcomatous transformation of the penis
Authors: Joana Dos Santos, Rafael Cabrebra, Beatriz Neves, Eduardo Silva, António Polónia
Journal: Autops Case Rep (2021)
Keywords: penile neoplasms, sarcomatoid carcinoma, squamous cell carcinoma, verrucous carcinoma
MeSH terms: Case Reports

Malignant tumors of the penis are rare, most of them being squamous cell carcinomas (SCCs). We report the case of a 75-year-old man with a large penile mass submitted to partial penectomy. The specimen showed an exophytic mass involving the glans, coronal sulcus, and prepuce. Microscopic examination showed a carcinoma with two distinct areas: a mixed SCC and a sarcomatoid carcinoma. The SCC component had areas of verrucous carcinoma and areas of classical invasive SCC. The tumor cells expressed p63 with the absence of p16 expression. Vimentin and p53 were positive in the sarcomatous component. The morphology and immunohistochemistry were compatible with mixed SCC (verrucous hybrid-sarcomatoid carcinoma). Additionally, the tumor cells also expressed 3 different clones of PDL1 (22C3, SP263, and SP142). Two months later, the patient presented local recurrence with multiple lymph nodes and lung metastases, dying 7 weeks later. Mixed tumors represent diagnostic challenges. The correct identification of adverse prognostic factors can be the first step to implement the treatment with a higher probability of success.
Late-onset acute type 1 diabetes mellitus 7 months after discontinuation of pembrolizumab against lung cancer
Authors: Seiya Ichihara, Michihiro Kunishige, Naoki Kadota, Yoshio Okano, Hisanori Machida, Nobuo Hatakeyama, Keishi Naruse, Tsutomu Shinohara, Eiji Takeuchi
Journal: Thorac Cancer (2023)
Keywords: acute-onset type 1 diabetes, after discontinuation, immune-related adverse events, late-onset, non-small-cell lung cancer
MeSH terms: Diabetes Mellitus, Type 1 / chemically induced, Diabetes Mellitus, Type 1 / diagnosis, Diabetes Mellitus, Type 1 / drug therapy, Lung Neoplasms / pathology, Case Reports, Aged, Female, Glycated Hemoglobin, Humans, Pemetrexed, pembrolizumab, Pemetrexed, Glycated Hemoglobin, Diabetes Mellitus, Insulin-Dependent, 7

Immune-related adverse events (irAEs) occur in rare cases, even after the completion of immune checkpoint inhibitor (ICI) therapy. We encountered a lung cancer patient diagnosed with acute-onset type 1 diabetes mellitus (DM) 7 months after the cessation of ICI. A 68-year-old woman was referred to our hospital for chest abnormalities. She was diagnosed with lung adenocarcinoma cT4N2M1c, stage IVB. Immunostaining showed that the expression of programmed death ligand 1 in tumor cells was negative. A genetic analysis using the Oncomine Dx Target Test Multi-CDx System revealed that the primary tumor was positive for ERBB2. Combined immunotherapy with carboplatin, pemetrexed, and pembrolizumab was performed as first-line therapy, followed by maintenance therapy with pemetrexed plus pembrolizumab, which was successful. After the seventh course, maintenance therapy was stopped because only the primary tumor showed local enlargement. Local chest radiotherapy (66 Gy/33 Fr) was performed, and the patient was followed up. HbA1c was 4.9% 3 months after the completion of pembrolizumab, and dry mouth and polyuria occurred after 5 months. Seven months later, the patient developed diabetic ketoacidosis with a blood glucose of 348 mg/dL and an HbA1c of 11.3%. Antiglutamic acid decarboxylase antibodies were negative and urinary C-peptide was 9.3 μg/day. The patient was diagnosed with acute-onset type 1 diabetes and received insulin therapy. There has been no case report of type 1 diabetes diagnosed 7 months after the last administration of an ICI. These results indicate that irAE needs to be considered even after the cessation of ICI.
Case report: From anxiety disorders to psychosis, a continuum in transitional age youth?
Authors: Joana Reis, Simone Marchini, Hélène Nicolis, Véronique Delvenne
Journal: Front Psychiatry (2022)
Keywords: anxiety disorders (ad), case report, psychosis, schizophrenia—spectrum disorders, transitional age youth, ultra-high risk (uhr)
MeSH terms: Case Reports

Introduction:
To date, among individuals meeting ultra-high risk criteria for psychosis, the relationship between the presence of anxiety disorders and the risk of psychotic transition raises several unanswered questions.
Case description:
This case report describes the clinical progression of a 17-year-old male initially presenting anxious symptoms meeting the DSM-V criteria for panic disorder. The patient also reported social withdraw, mild depressive symptoms, insomnia and fatigue. Over a 6 month period, a gradual onset of subthreshold psychotic symptoms suggested a prodromal phase of a psychotic disorder.
Diagnostic assessment and therapeutic intervention:
A detailed assessment of UHR criteria for psychosis was performed. The overall level of social and occupational functioning was assessed by the SOFAS, which showed a 35% drop over a 12 months period. The CAARMS, has also been administered. The patient met the diagnostic criteria for UHR, APS group. The care plan included psychiatric follow-up, pharmacologic treatment, individual psychological follow-up and individual and familial psychoeducation. Over a 6 months period, the patient did not experienced a first psychotic episode and presented a partial improvement of psychotic symptoms.
Conclusion:
The DSM-V categorical approach does not seem to adapt well to early clinical presentations in transitional age youth. A transdiagnostic and dimensional approach allows to better identify at-risk patients of psychiatric disorders and implement early intervention strategies.
The Development of Primary Effusion Lymphoma-Like Lymphoma in a Patient with Preexisting Essential Thrombocythemia
Authors: Yoshiki Uemura, Marina Komoto, Mitsuo Okada
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

A 71-year-old Japanese male was diagnosed with essential thrombocythemia (ET) with the JAK2 V617F mutation variation, in April 2011. He was mainly treated with hydroxyurea following which the number of platelets was maintained within the normal limit. At age 80, he was hospitalized due to cardiac tamponade. Computed tomography showed no evidence of tumor masses or lymphadenopathy. Pericardial drainage was performed, and cytopathologic examination of the fluid revealed atypical lymphoid cells consistent with an effusion lymphoma of B cell lineage. The pericardial effusion was completely drained, and complete remission was achieved. Ultimately, the patient was diagnosed with primary effusion lymphoma-like lymphoma (PEL-LL). To the best of our knowledge, this is the first report of PEL-LL following ET.
Absence of mTOR Inhibitor Effect on Hepatic Cyst Growth: A Case Report of a Kidney Transplant Recipient with Autosomal Dominant Polycystic Kidney Disease
Authors: L Friedrich, F Barbey, M Pascual, J-P Venetz
Journal: Case Rep Transplant (2012)

Some experimental studies have suggested a beneficial effect of the mammalian target of rapamycin (mTOR) inhibitor use on hepatic and renal cyst growth in patients with autosomal dominant polycystic kidney disease (ADPKD). However, the results of clinical studies are conflicting and the role of mTOR inhibitors is still uncertain. We report the case of a patient with ADPKD who underwent deceased kidney transplantation because of an end-stage renal disease. The evolution was uneventful with an excellent graft function under cyclosporine (CsA) monotherapy. Some years later, the patient developed a symptomatic hepatomegaly due to growth of cysts. CsA was replaced by sirolimus, an mTOR inhibitor, in order to reduce or control the increase in the cyst and liver volume. Despite the switch, the hepatic volume increased by 25% in two years. Finally sirolimus was stopped because of the lack of effect on hepatic cyst growth and the presence of sirolimus side effects. The interest of our case resides in the followup by MRI imaging during the mTOR inhibitor treatment and 15 months after the restart of the initial immunosuppressive therapy. This observation indicates that mTOR inhibitors did not have significant effect on cyst-associated hepatic growth in our patient, which is consistent with some results of recent large clinical studies.
Hepatic metastasis in Frantz's tumor: A case report
Authors: Gisela Pereira Xavier Albuquerque, Aline Maria Pereira Cruz Ramos, Ana Karyssa Mendes Anaissi, Samia Demachki, Williams Fernandes Barra, Helena Cecilia Branches Soares, Marta Solange Camarinha Ramos Costa, Amanda Carolina Rozario Pantoja, Geraldo Ishak, Paulo Pimentel Assumpção
Journal: Int J Surg Case Rep (2020)
Keywords: case report, frantz’s tumor, hepatic metastasis, pancreatic tumor, solid pseudopapillary neoplasm
MeSH terms: Case Reports

Introduction:
Frantz's Tumor or Solid Pseudopapillary Neoplasm (SPN) is rare with a solid-cystic pattern, and most common in young women.
Presentation of case:
This study based on guidelines for case reports (SCARE) reports a case of SPN in a teenager aged 13 years at the diagnosis time, attended at a teaching public hospital in Brazil, which evolved into liver metastases. Clinical, laboratory, therapeutic and imaging data were collected from the physical chart and analyzed in light of current publications on the topic. The first consultation occurred in January 2012, where weight loss, fever, vomiting, left-sided hypochondrium and epigastric pain were reported. Imaging exams evidenced an expansive heterogeneous process in the pancreatic tail; however, laboratory exams and tumor markers did not present alteration in relation to reference values. In March of 2012, she underwent caudal body pancreatectomy, splenectomy, segmental colectomy and colo-coloanastomosis as a function of the intraoperative findings. After 63 months, right-sided hepatectomy was performed to resect metastases. Currently, she is undergoing outpatient monitoring, without complaint or alterations in imaging and laboratory exams, totaling 100 months of global survival.
Discussion:
This is an interesting case report of a rare tumor, in so far as without any adjuvant chemotherapies, an 8-year long survival time could be achieved in this particular type of tumor despite initially large tumor expansion and later liver metastases.
Conclusion:
Additional epidemiological studies, molecular and clinical trials are required to increase knowledge on SPN.
Yellow Nail Syndrome with Bilateral Pleural Plaques and Diffuse Pleural Thickening: A Mimic of Asbestos Related Disease
Authors: Adam Dallmann, Richard L Attanoos
Journal: Case Rep Pulmonol (2018)
MeSH terms: Case Reports

Yellow nail syndrome is a rare acquired condition of unknown aetiology associated with distinct nail discolouration/xanthonychia, pulmonary manifestations, and lymphoedema. Pleural plaques and diffuse pleural thickening are typically, although not exclusively, recognised as markers of prior commercial asbestos exposure. The presence of such biomarkers may assist an asbestos personal injury evaluation. A postmortem examination performed on a 72-year-old man with known long-standing yellow nail syndrome identified pleural plaques and diffuse pleural thickening. An evaluation of the occupational history identified no known asbestos exposure. Electron microscopic mineral fibre analysis detected no asbestos fibres. To the best of our knowledge, this is the only case of yellow nail syndrome in which these benign pleural changes are reported ex asbestos. Alternate causes for such pleural pathology were absent. There is merit in physicians and pathologists having an awareness of these new manifestations when considering claimed asbestos related changes during life and at postmortem.