OpenMed/multicare-articles huggingface dataset:
Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr)
Authors: Alexander Puzik, Deborah J Morris-Rosendahl, Klaus-Dieter Rückauer, Claudia Otto, Peter Gessler, Ulrich Saueressig, Roland Hentschel
Journal: BMC Pediatr (2014)
MeSH terms: Cystic Fibrosis / complications, Cystic Fibrosis / genetics, Cystic Fibrosis Transmembrane Conductance Regulator / genetics, Diseases in Twins / genetics, Ileus / genetics, Infant, Premature, Diseases / genetics, Meconium, Case Reports, Research Support, Non-U.S. Gov't, Fatal Outcome, Humans, Infant, Newborn, Infant, Premature, Male, Mutation, CFTR protein, human, Cystic Fibrosis Transmembrane Conductance Regulator

Background:
In term newborns meconium ileus is frequently associated with cystic fibrosis. Reports on meconium ileus in preterm infants being diagnosed with cystic fibrosis early after birth are very scarce. Associations between genotype and phenotype in cystic fibrosis and its particular comorbidities have been reported.
Case presentation:
Two extremely preterm twin infants (26 weeks of gestation) born from a Malaysian mother and a Caucasian father were presented with typical signs of meconium ileus. Despite immediate surgery both displayed a unique and finally lethal course. Mutation analysis revealed a novel, probably pathogenic cystic fibrosis mutation, p.Cys524Tyr. The novel mutation might explain the severity of disease next to typical sequelae of prematurity.
Conclusion:
Preterm neonates with meconium ileus have to be evaluated for cystic fibrosis beyond ethnical boundaries, but may take devastating clinical courses despite early treatment. The novel, potentially pathogenic CF mutation p.Cys524Tyr might be associated with severe meconium ileus in neonates. Disease-modifying loci are important targets for intestinal comorbidity of cystic fibrosis.
Right diaphragmatic injury and lacerated liver during a penetrating abdominal trauma: case report and brief literature review
Authors: Antonino Agrusa, Giorgio Romano, Daniela Chianetta, Giovanni De Vita, Giuseppe Frazzetta, Giuseppe Di Buono, Vincenzo Sorce, Gaspare Gulotta
Journal: World J Emerg Surg (2014)
Keywords: diaphragmatic injury, diaphragmatic repair, liver laceration, penetrating abdominal trauma, stab wound
MeSH terms: Review

Introduction:
Diaphragmatic injuries are rare consequences of thoracoabdominal trauma and they often occur in association with multiorgan injuries. The diaphragm is a difficult anatomical structure to study with common imaging instruments due to its physiological movement. Thus, diaphragmatic injuries can often be misunderstood and diagnosed only during surgical procedures. Diagnostic delay results in a high rate of mortality.
Methods:
We report the management of a clinical case of a 45-old man who came to our observation with a stab wound in the right upper abdomen. The type or length of the knife used as it was extracted from the victim after the fight. CT imaging demonstrated a right hemothorax without pulmonary lesions and parenchymal laceration of the liver with active bleeding. It is observed hemoperitoneum and subdiaphragmatic air in the abdomen, as a bowel perforation. A complete blood count check revealed a decrease in hemoglobin (7 mg/dl), and therefore it was decided to perform surgery in midline laparotomy.
Conclusion:
In countries with a low incidence of inter-personal violence, stab wound diaphragmatic injury is particularly rare, in particular involving the right hemidiaphragm. Diaphragmatic injury may be underestimated due to the presence of concomitant lesions of other organs, to a state of shock and respiratory failure, and to the difficulty of identifying diaphragmatic injuries in the absence of high sensitivity and specific diagnostic instruments. Diagnostic delay causes high mortality with these traumas with insidious symptoms. A diaphragmatic injury should be suspected in the presence of a clinical picture which includes hemothorax, hemoperitoneum, anemia and the presence of subdiaphragmatic air in the abdomen.
Invasive pulmonary aspergillosis 10 years post bone marrow transplantation: a case report
Authors: Rifat Rashid, David W Denning
Journal: J Med Case Rep (2009)

Introduction:
Invasive pulmonary aspergillosis is a leading cause of mortality and morbidity in bone marrow transplant recipients. Establishing the diagnosis remains a challenge for clinicians working in acute care setting. However, prompt diagnosis and treatment can lead to favourable outcomes
Case presentation:
We report a case of invasive aspergillosis occurring in a 39-year-old Caucasian female 10 years after an allogeneic haematopoietic bone marrow transplant, and 5 years after stopping all immunosuppression. Possible risk factors include bronchiolitis obliterans and exposure to building dust (for example, handling her husband's dusty overalls). There are no similar case reports in the literature at this time.
Conclusion:
High clinical suspicion, especially in the setting of failure to respond to broad-spectrum antibiotics, should alert clinicians to the possibility of invasive pulmonary aspergillosis, which, in this case, responded to antifungal therapy.
Genetic or Psychogenic? A Case Study of "Folie à Quatre" Including Twins
Authors: Tohru Ohnuma, Heii Arai
Journal: Case Rep Psychiatry (2015)

Shared psychotic disorder, characterized by shared delusion among two or more subjects (termed "Folie à deux," "trois," etc.), is often associated with strong religious beliefs or social isolation, factors creating strong psychological sympathy. Recently, we treated a rare familial case of "Folie à quatre" in central Tokyo without such influences. The proband was a schizophrenia patient and younger brother within monozygotic twins. Positive symptoms were "transmitted" to remaining family members, his elder brother, mother, and father father, in a relatively short period of three months. Although the pathophysiology of these positive symptoms (delusions and hallucinations) remains unclear, the transmission pattern suggests the primacy of social and environmental factors (and/or their interaction), while genetics appeared less influential in this "Folie à famille." Although undiagnosed psychoses in the whole family cannot be excluded, they did not share the other negative schizophrenia symptoms of the proband. A strong familial connection appeared to be the most important factor for the common delusion and hallucination.
Primary neuroendocrine tumor of the left hepatic duct: a case report with review of the literature
Authors: Ajay H Bhandarwar, Taher A Shaikh, Ashok D Borisa, Jaydeep H Palep, Arun S Patil, Aditya A Manke
Journal: Case Rep Surg (2012)

Primary Biliary Tract Neuroendocrine tumors (NET) are extremely rare tumors with only 77 cases been reported in the literature till now. We describe a case of a left hepatic duct NET and review the literature for this rare malignancy. To the best of our knowledge the present case is the first reported case of a left hepatic duct NET in the literature. In spite of availability of advanced diagnostic tools like Computerized Tomography (CT) Scan and Endoscopic Retrograde Cholangio Pancreaticography (ERCP) a definitive diagnosis of these tumors is possible only after an accurate histopathologic diagnosis of operative specimens with immunohistochemistry and electron microscopy. Though surgical excision remains the gold standard treatment for such tumors, patients with unresectable tumors have good survival with newer biologic agents like Octreotride.
Case report: Atypical anaphylactic reaction to Patent Blue V dye during breast cancer surgery
Authors: Stanka Misir Šitum, Iva Korečić Zrinjščak, Maja Pečvarac, Andrea Šoštar, Ana Žaja, Tea Tot
Journal: Front Oncol (2022)
Keywords: anaphylactic reaction, anesthesia, breast cancer, case report, patent blue v dye
MeSH terms: Case Reports

The most common causes of perioperative hypersensitive reactions are neuromuscular blocking drugs, latex, and antibiotics, although there are other more emerging causative agents. Allergic reactions to Patent Blue V (PBV) dye have been reported. Most of them are mild and presented with blue coloration of cutaneous plaque. The PBV dye is widely used in the identification of sentinel lymph nodes in patients with breast cancer and other malignancies. Here, we present a case of 33-year-old patient with carcinoma of the breast proposed for sentinel lymph node and skin-sparing mastectomy with severe, life-threatening anaphylaxis which occurred immediately after PBV dye was injected, with cardiopulmonal resuscitation and prolonged refractory hypotension. The patient was without previous exposure to PBV and signs of skin rash, erythema, or bronchospasm, making the diagnosis and management of such cases challenging. Skin tests were performed on all drugs used in premedication and induction of anesthesia and PBV showed positive at IDT of 1:10. Physicians must always think of possible adverse reaction to PBV and for the potential risk of anaphylactic reaction immediately after the dye is injected, during anesthesia and other procedures.
Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene
Authors: Tingyu Rong, Ruen Yao, Yujiao Deng, Qingmin Lin, Guanghai Wang, Jian Wang, Fan Jiang, Yanrui Jiang
Journal: Front Pediatr (2022)
Keywords: pcca, pch2d, sepsecs mutation, developmental delay, milder phenotype
MeSH terms: Case Reports

Mutations in the human O-phosphoseryl-tRNA:selenocysteinyl-tRNA synthase gene (SEPSECS) are associated with progressive cerebello-cerebral atrophy (PCCA), also known as pontocerebellar hypoplasia type 2D (PCH2D). Early-onset profound developmental delay, progressive microcephaly, and hypotonia that develops toward severe spasticity have been previously reported with SEPSECS mutations. Herein we report a case with severe global developmental delay, myogenic changes in the lower limbs, and insomnia, but without progressive microcephaly and brain atrophy during infancy and toddlerhood in a child harboring the SEPSECS missense variant c.194A>G (p. Asn65Ser) and a novel splicing mutation c.701+1G>A. With these findings we communicate the first Chinese SEPSECS mutant case, and our report indicates that SEPSECS mutations can give rise to a milder phenotype.
Sustained Complete Response to Cytotoxic Therapy and the PARP Inhibitor Veliparib in Metastatic Castration-Resistant Prostate Cancer - A Case Report
Authors: David J VanderWeele, Gladell P Paner, Gini F Fleming, Russell Z Szmulewitz
Journal: Front Oncol (2015)
Keywords: brca2, erg, parp inhibitor, tp53, complete response, prostate cancer, veliparib

Solid tumors harboring BRCA1 or BRCA2 mutations have been shown to respond to PARP inhibitors. These responses are partial and transient. In this case report, we describe an 82-year-old male with poorly differentiated prostate cancer with metastases to the lung, liver, abdomen, and bowel. Molecular testing demonstrated alterations in BRCA2, ERG, and TP53. Based on this result, he was enrolled in a therapeutic trial and received carboplatin, gemcitabine, and veliparib, to which he had a partial response. He continued to respond while on veliparib maintenance alone, and after 38 cycles he had a sustained complete response. A sustained complete response to PARP inhibitor-based therapy has not previously been described for prostate cancer. This case suggests that cytotoxic therapy in combination with PARP inhibitors may yield exceptional responses, and molecular studies may help guide patient selection for these therapies.
Experiences and challenges in the management of pregnancy-associated breast cancer at the Korle Bu Teaching Hospital: a review of four cases
Authors: Josephine Nsaful, Verna Vanderpuye, Aba Anoa Scott, Florence Dedey, Samuel A Oppong, Rita Appiah-Danquah, Nelson Damale, Benjamin Fenu, Theodore Wordui, Joel Yarney, Joe Nat Clegg-Lamptey
Journal: Ecancermedicalscience (2020)
Keywords: gestational breast cancer, multidisciplinary team, pregnancy-associated breast cancer
MeSH terms: Case Reports

Breast cancer is the commonest female cancer worldwide and the most common malignancy during pregnancy. The current management of breast cancer is based on patient and tumour characteristics, preferences and disease stage. In pregnancy-associated breast cancer, the gestational age influences treatment options. Sequencing of therapies is guided by safe imaging options, timing of delivery and prognosis. Systemic therapy options in the neoadjuvant, adjuvant and palliative settings are limited due to safety concerns of the unborn foetus. In resource-constrained regions, the application of safe options may be challenging. This paper reports four of such cases managed in Ghana using a multidisciplinary approach and local resource-appropriate evidence-based practices. Maternal and foetal outcomes were acceptable with none resulting in termination of pregnancy.
Intraocular lens power calculation after phototherapeutic keratectomy: case report and a new method
Authors: Omar Kirat
Journal: Middle East Afr J Ophthalmol (2008)
Keywords: iol power calculation, ptk, formula, keratometry, refractive surprise

To report a case of cataract extraction and intraocular lens (IOL) implantation after phototherapeutic keratectomy (PTK). The IOL power was calculated using the single-K and the double-K SRK/T formula, as well as the Haigis formula after modifying the post PTK corneal power using methods described for corneal power measurements after myopic excimer laser treatment (photorefractive keratectomy (PRK) and LASIK). A new method for IOL power calculation after PTK is introduced.
Rare form of erdheim-chester disease presenting with isolated central skeletal lesions treated with a combination of alfa-interferon and zoledronic Acid
Authors: E N Bulycheva, V V Baykov, M I Zaraĭskiĭ, G N Salogub
Journal: Case Rep Hematol (2015)

Erdheim-Chester disease (ECD) represents a clonal non-Langerhans histiocytosis, which manifests under an extensive variety of clinical symptoms. This creates a challenge for the physician, who is required to recognize and diagnose the disease in the early stages. Despite this considerable challenge, in the last decade there has been a dramatic increase in ECD diagnoses, in most part due to an increasing awareness of this rare disorder. Involvement of the axial skeleton is exclusively uncommon with no official recommendations for the treatment of the bone lesions. Here, we present a case report of a young male patient with isolated lesions of the spine, ribs, and pelvis, who was successfully treated with a combination therapy of alfa-interferon and zoledronic acid.
Coexistence of a novel STRN-ALK, NBEA-ALK double-fusion in an ovarian malignant mesothelioma patient: a case report and review
Authors: Xiao Wu, Qi Wang, Xiaohu Xu
Journal: Front Oncol (2023)
Keywords: strn, anaplastic lymphoma kinase gene (alk), case report, neurobeachin (nbea), primary ovarian mesothelioma
MeSH terms: Case Reports

Primary ovarian mesothelioma (POM) is a rare malignant tumor with poor prognosis. Although anaplastic lymphoma kinase gene (ALK) double-fusion partners have been found in various tumors, it is rarely reported in mesothelioma. In this article, we describe the coexistence of a novel STRN-ALK, neurobeachin (NBEA)-ALK double-fusion in a patient with primary ovarian mesothelioma. A 30-year-old woman was found to have pelvic masses for more than a year. Color Doppler ultrasound showed mixed mass in the left ovary and multiple solid masses in the right ovary. the patient underwent laparoscopic surgery, including total hysterectomy, bilateral salpingo-oopherectomy, pelvic lymph node and abdominal aortic lymph node resection, omentum resection and abdominal focus resection. Pathologic examination revealed bilateral ovarian malignant mesothelioma and no evidence of malignancy in the resected bilateral round/broad ligaments, bilateral parametrial tissues, vaginal stump, bilateral fallopian tubes, pelvic and paraaortic lymph nodes. Immunohistochemistry showed that it was positive for Calretinin, VIM, WT1, PAX8, mesothelin, CK5/6, PCK, CK7, MLH1, PMS2, MSH2, MSH6, weakly positive for BAP1, while being negative for Napsin A, P504S, CEA, D2-40, GATA3. The sequencing analysis identified STRN-ALK (intron3:intron19) and NBEA-ALK (intron1:intron16) double-ALK fusion. To the best of our knowledge, this is the first report that a novel NBEA-ALK and EML4-ALK coexist in one patient with POM. The patient has completed 6 cycles of continuous chemotherapy and is in stable condition. Whether ALK inhibitors can bring promising benefits to POM patients in the future deserves further study.
Nontraumatic Epithelial Ingrowth 15 Years Post Laser In Situ Keratomileusis
Authors: Joanna S Saade, Baha' Noureddin, Shady T Awwad
Journal: Case Rep Ophthalmol Med (2019)
MeSH terms: Case Reports

Purpose. Epithelial ingrowth occurring many years after primary Laser in Situ Keratomileusis (LASIK) without a preceding traumatic event is very rare. Case Report. We describe the case of a 61-year-old woman with epithelial ingrowth in her right eye 15 years after primary LASIK. She presented with right eye redness, pain, and decreased vision and denied any preceding trauma. An epithelial cells' tract was visible on Optical Coherence Tomography. Conservative treatment lead to the stabilization of the epithelial nests. Discussion. Epithelial ingrowth can occur many years after LASIK and may be due to a microtrauma to the edge of the flap.
Facilitating Airway Surgery in a Morbidly Obese Patient Using Transnasal Humidified Rapid Insufflation Ventilatory Exchange (THRIVE)
Authors: Si-Jia Lee, Kelvin Howyow Quek
Journal: Case Rep Anesthesiol (2018)
MeSH terms: Case Reports

Transnasal Humidified Rapid Insufflation Ventilatory Exchange (THRIVE) is a relatively new noninvasive oxygenation technique with a broad range of applications. It is used in the treatment of type one respiratory failure, as a preoxygenation tool, as a rescue and temporising measure in difficult airways, and as step-down oxygen therapy in patients after extubation. Its use has also been described in laryngeal surgeries, but they mainly involved normal-weight subjects or were used as a bridging oxygenation therapy before definitive airway is secured. The major benefits of using THRIVE in obese subjects undergoing laryngeal surgery include a tubeless and uninterrupted surgical field. This advantage is especially crucial in obese patients as they tend to have limited oropharyngeal space, rendering a shared airway technically challenging for surgeons. However, concerns of potential difficult airway and shorter safe apnoeic time in the obese population limit its use. In this case, we report its use as the sole oxygenation strategy in a morbidly obese patient undergoing airway surgery. Our experience suggests that THRIVE can provide a conducive operating field and adequate oxygenation in short apnoeic laryngeal procedures in the obese population, without causing excessive hypercarbia.
Case Report: Myomatous erythrocytosis syndrome presenting as rapid growth of an extra-uterine mass
Authors: Shao-Jing Wang, Yun-An Chen, Yu-Hsiang Shih, Ming-Jer Chen, Chien-Hsing Lu
Journal: Front Surg (2022)
Keywords: broad ligament, ectopic erythropoiesis, leiomyoma, myomatous erythrocytosis syndrome, uterine fibroids
MeSH terms: Case Reports

Objective:
To report a case of myomatous erythrocytosis syndrome (MES) with an extra-uterine manifestation.
Case report:
A 43-year-old woman presented with progressive abdominal distension and rapid enlargement of a pelvic mass. Upon survey, a high-level of hemoglobin (19.0 g/dl) was documented. The initial impression was an ovarian malignancy, but uterine sarcoma could not be ruled out because of its rapid growth. However, during exploratory laparotomy, the pelvic mass was found to be a 31 cm broad ligament leiomyoma; which is extremely rare for its size and location. The specimen was further studied immunohistochemically, which revealed excessive expressions of erythropoietin and erythropoietin receptors in addition to the diffusely matured blood vessels in the myoma tissue. The patient's hemoglobin level resumed to normal three months post-surgery. The diagnosis of MES was confirmed both clinically and histologically.
Conclusion:
A correct preoperative diagnosis is challenging when MES manifests as an extrauterine mass. The coexistence of MES should be considered in the management of all leiomyoma with polycythemia, regardless of locations.
48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis
Authors: Baha Zantour, Mohamed Habib Sfar, Samia Younes, Wafa Alaya, Mahdi Kamoun, Emna Mkaouar, Saida Jerbi
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family.
Tuberculosis of the oral cavity affecting alveolus: a case report
Authors: Bipin Kumar
Journal: Case Rep Dent (2011)
MeSH terms: Case Reports

We report a first case of tuberculosis of oral cavity affecting the left alveolus from Nepal in a 63-year-old male who came to otorhinolaryngology outpatient department with a complaint of an ulcer in the oral cavity and pain in bilateral ear and throat. An ulcer measuring 1.8 cm in diameter with irregular friable margin and bleeding on touch was found in the left upper alveolar region of the oral cavity. Biopsy from the ulcer margin revealed histological features of necrotizing granulomatous lesion. Stain for acid fast bacilli was positive.