OpenMed/multicare-articles huggingface dataset:
Cancer genetics education in a low- to middle-income country: evaluation of an interactive workshop for clinicians in Kenya
Authors: Jessica A Hill, Su Yeon Lee, Lucy Njambi, Timothy W Corson, Helen Dimaras
Journal: PLoS One (2015)
MeSH terms: Education, Medical, Continuing / methods, Eye Neoplasms / diagnosis, Genetic Counseling, Genetic Services / standards, Health Knowledge, Attitudes, Practice, Retinoblastoma / diagnosis, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Clinical Competence, Delivery of Health Care, Eye Neoplasms / genetics, Genetic Testing, Humans, Kenya, Physicians, Retinoblastoma / genetics

Background:
Clinical genetic testing is becoming an integral part of medical care for inherited disorders. While genetic testing and counseling are readily available in high-income countries, in low- and middle-income countries like Kenya genetic testing is limited and genetic counseling is virtually non-existent. Genetic testing is likely to become widespread in Kenya within the next decade, yet there has not been a concomitant increase in genetic counseling resources. To address this gap, we designed an interactive workshop for clinicians in Kenya focused on the genetics of the childhood eye cancer retinoblastoma. The objectives were to increase retinoblastoma genetics knowledge, build genetic counseling skills and increase confidence in those skills.
Methods:
The workshop was conducted at the 2013 Kenyan National Retinoblastoma Strategy meeting. It included a retinoblastoma genetics presentation, small group discussion of case studies and genetic counseling role-play. Knowledge was assessed by standardized test, and genetic counseling skills and confidence by questionnaire.
Results:
Knowledge increased significantly post-workshop, driven by increased knowledge of retinoblastoma causative genetics. One-year post-workshop, participant knowledge had returned to baseline, indicating that knowledge retention requires more frequent reinforcement. Participants reported feeling more confident discussing genetics with patients, and had integrated more genetic counseling into patient interactions.
Conclusion:
A comprehensive retinoblastoma genetics workshop can increase the knowledge and skills necessary for effective retinoblastoma genetic counseling.
Case Report: Unmanipulated Matched Sibling Donor Hematopoietic Cell Transplantation In TBX1 Congenital Athymia: A Lifesaving Therapeutic Approach When Facing a Systemic Viral Infection
Authors: Maria Chitty-Lopez, Carla Duff, Gretchen Vaughn, Jessica Trotter, Hector Monforte, David Lindsay, Elie Haddad, Michael D Keller, Benjamin R Oshrine, Jennifer W Leiding
Journal: Front Immunol (2022)
Keywords: tbx1 congenital athymia, adenoviremia, definitive treatment, hematopoietic-stem-cell-transplantation, newborn screening (nbs)
MeSH terms: Immunologic Deficiency Syndromes / genetics, T-Box Domain Proteins / genetics, Thymus Gland / abnormalities, Case Reports, Female, Hematopoietic Stem Cell Transplantation / methods, Humans, Immunologic Deficiency Syndromes / surgery, Infant, Newborn, Severe Combined Immunodeficiency / genetics, Severe Combined Immunodeficiency / surgery, Siblings, Thymus Gland / surgery, T-Box Domain Proteins, TBX1 protein, human, Thymic aplasia

Congenital athymia can present with severe T cell lymphopenia (TCL) in the newborn period, which can be detected by decreased T cell receptor excision circles (TRECs) on newborn screening (NBS). The most common thymic stromal defect causing selective TCL is 22q11.2 deletion syndrome (22q11.2DS). T-box transcription factor 1 (TBX1), present on chromosome 22, is responsible for thymic epithelial development. Single variants in TBX1 causing haploinsufficiency cause a clinical syndrome that mimics 22q11.2DS. Definitive therapy for congenital athymia is allogeneic thymic transplantation. However, universal availability of such therapy is limited. We present a patient with early diagnosis of congenital athymia due to TBX1 haploinsufficiency. While evaluating for thymic transplantation, she developed Omenn Syndrome (OS) and life-threatening adenoviremia. Despite treatment with anti-virals and cytotoxic T lymphocytes (CTLs), life threatening adenoviremia persisted. Given the imminent need for rapid establishment of T cell immunity and viral clearance, the patient underwent an unmanipulated matched sibling donor (MSD) hematopoietic cell transplant (HCT), ultimately achieving post-thymic donor-derived engraftment, viral clearance, and immune reconstitution. This case illustrates that because of the slower immune recovery that occurs following thymus transplantation and the restricted availability of thymus transplantation globally, clinicians may consider CTL therapy and HCT to treat congenital athymia patients with severe infections.
Elephantiasis and Directed Occupational Rehabilitation
Authors: Jose Maria Pereira de Godoy, Henrique Jose Pereira de Godoy, Ana Carolina Pereira de Godoy, Maria de Fátima Guerreiro Godoy
Journal: Case Rep Vasc Med (2019)
MeSH terms: Case Reports

The aim of the present study was to demonstrate the cure of elephantiasis over a ten-year follow-up period and novel discoveries with directed occupational rehabilitation. A 66-year-old female patient with a history of bilateral lower limb lymphedema reported the aggravation of the condition over the years, reaching stage III (elephantiasis). The physical examination confirmed elephantiasis. The circumference of the left lower limb was 106 cm. Her body weight was 106 kilograms, height was 160 cm, and the body mass index (BMI) was 41.6 kg/m2. The patient was submitted to intensive treatment for three weeks, which led to a 21-kg reduction in weight and 66 cm reduction in leg circumference. Ten years after treatment, the patient has maintained the results with the compression stockings. Elephantiasis can be cured, although lymphedema cannot. The cure of elephantiasis depends on maintaining the treatment of lymphedema after normalization or near normalization. Directed occupational therapy stimulates the search for new activities and a life closer to normality.
Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports
Authors: Kyung Min Kang, Soo Hyun Kim, Ji Eun Park, Hyunjin Kim, Hee Yeon Jang, Minyeon Go, So Hyun Yang, Sang Woo Ryu, Sung Mi Bae, Dong Hyun Cha, Sung Han Shim
Journal: Front Med (Lausanne) (2022)
Keywords: confined placental mosaicism, mass parallel sequencing, non-invasive prenatal testing, placenta-derived cell free dna, whole genome sequencing

We aimed to identify the causes of inconsistent results between non-invasive prenatal testing (NIPT) and invasive testing methods for trisomy 21. In the first case, NIPT was performed at 11 weeks of pregnancy, and the result showed a high risk of trisomy 21 [fetal fraction (FF) = 6.98%, 21 chromosome Z-score = 3.6]. The patient underwent quantitative fluorescent (QF)-PCR and karyotyping at 14 + 0 weeks of pregnancy through CVS showing mosaicism of 47, XX, + 21[11] and 46, XX [39] in karyotyping. The patient underwent amniocentesis at 15 + 6 weeks, showing a normal pattern in QF-PCR and 46, XX karyotyping in long term culture. The second case underwent NIPT at 16 + 5 weeks of pregnancy (FF = 7.52%, 21 chromosome Z-score = 2.503). She underwent an invasive test at 19 weeks through amniotic fluid sampling. As a result, trisomy 21 was detected by QF-PCR, and mosaicism of XX, +21[22]/46, XX [4] was identified by karyotyping. Despite significant advances in fetal chromosome analysis using NIPT, invasive testing is still needed as placenta-derived DNA does not reflect 100% fetal genetic information. Placental mosaicism can be detected by NIPT, but more research is needed to increase its sensitivity. Therefore, if the NIPT result is positive, an invasive test can confirm the result, and continuous monitoring is required even if the NIPT result is negative.
Maintained complete response to talazoparib in a BRCA-2 mutated metastatic luminal breast cancer: case report and review of literature
Authors: Víctor Albarrán, Jesús Chamorro, Javier Pozas, María San Román, Diana Isabel Rosero, Cristina Saavedra, María Gion, Alfonso Cortés, Elena Escalera, Eva Guerra, Elena López Miranda, María Fernández Abad, Noelia Martínez Jañez
Journal: Front Oncol (2023)
Keywords: brca, parp inhibitors, breast cancer, germline, olaparib, talazoparib
MeSH terms: Case Reports

PARP inhibitors are progressively becoming a part of our therapeutic arsenal against BRCA-defective tumors, because of their capacity to induce synthetic lethality in cells with a deficiency in the homologous recombination repair system. Olaparib and talazoparib have been approved for metastatic breast cancer in carriers of germline BRCA mutations, which are found in approximately 6% of patients with breast cancer. We report the case of a patient with metastatic breast cancer, carrier of a germline mutation in BRCA2, with a complete response to first-line treatment with talazoparib, maintained after 6 years. To the best of our knowledge, this is the longest response reported with a PARP inhibitor in a BRCA-mutated tumor. We have made a review of literature, regarding the rationale for PARP inhibitors in carriers of BRCA mutations and their clinical relevance in the management of advanced breast cancer, as well as their emerging role in early stage disease, alone and in combination with other systemic therapies.
Massive Presentation of a Neglected Basal Cell Ulcer on the Forehead and Outcome With Radiation Therapy: A Case Report and Literature Review
Authors: Sindu Iska, Gerald Sokol, Ali Sawani, Prateek Patibandla
Journal: Cureus (2023)
Keywords: aggressive, basal cell carcinoma of scalp, neglected, radiation therapy, seizures
MeSH terms: Case Reports

Basal cell carcinoma (BCC) of the scalp is the most common cancer of the skin and is locally invasive. The patched/hedgehog intracellular signaling pathway is responsible for regulating cell growth and tumor formation by inactivating mutation of protein patched homolog 1 (PTCH1) or activating mutation of Smoothened (SMOm). BCC can cause significant morbidity from local destruction if neglected. The risk of metastasis and death is 6.5% in tumors greater than or equal to 2 cm in size. The gold standard treatment is surgical excision. Radiation therapy is used to treat skin cancers as an adjuvant or in patients who are not candidates for surgical intervention or who refuse therapy. It works by using low-energy X-rays or electron beam radiation. They work on the superficial skin and do not affect the organs deeper. Here, we describe the case of a man who presented with an unwitnessed seizure and was found to have a large ulcer on his forehead, which was later diagnosed to be BCC of the scalp eroding the calvarium. The base of the ulcer was the patient's dura and brain. He was successfully treated with electron beam radiation therapy for six weeks with careful preservation of brain tissue. The patient's skin was re-epithelialized and the bone was recalcified. The ulcer on the forehead has completely regressed. This case report and literature review illustrates the evidence to propose the importance of radiation therapy and its potential to be the first-line treatment in BCC, especially in similar cases like ours. Multimodality treatment with a radiation oncologist, dermatologist, and medical oncologist can save patients from devastating outcomes.
Pool Toes: A Case Report
Authors: Mohammad Munshi, Luca Borradori, Nikhil Yawalkar, Kristine Heidemeyer
Journal: Case Rep Dermatol (2023)
Keywords: aquatic, dermatitis, dermatoses, feet, fresh, palm, pedal, pool, swimming, toes, water
MeSH terms: Case Reports

Pool toes, a sport-related dermatosis, are caused by mechanical friction and water exposure, resulting in a special variant of irritant contact dermatitis. It is common in children, often misdiagnosed, and rarely reported. Here we report a case of a 7-year-old girl who developed this unusual type of frictional dermatitis; a pool toes diagnosis has been made. With topical corticosteroids, favorable results have been achieved. The recovery and healing process will be facilitated if one is aware of the underlying causes of such dermatitis and ceases the triggering factors.
Successful Endoscopic Treatment of Bouveret Syndrome in a Patient with Choledochoduodenal Fistula Complicating Duodenal Ulcer
Authors: Syed Hasan, Zubair Khan, Umar Darr, Toseef Javaid, Nauman Siddiqui, Jamal Saleh, Abdallah Kobeissy, Ali Nawras
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Introduction:
Cholecystoduodenal fistulas represent the most common type of bilioenteric fistulas while choledochoduodenal fistulas account for only 1-25% of cases. Bilioenteric fistula cases are associated with cholelithiasis and are rarely associated with duodenal peptic ulcers. Here we present the first case of Bouveret syndrome secondary to choledochoduodenal fistula complicating peptic duodenal ulcer managed successfully via endoscopic mechanical lithotripsy.
Case:
86-year-old male with a medical history significant for coronary artery disease and stage 3 colorectal cancer status after resection and chemoradiation presented with intractable sharp abdominal pain worse postprandially for one week in duration, associated with early satiety, anorexia, and 5 lbs weight loss in one week. CT abdomen showed possible choledochoduodenal fistula and a distended stomach. An esophagogastroduodenoscopy (EGD) was performed revealing a large 2.5-3 cm stone lodged in the duodenal bulb at the base of duodenal ulcer with a fistula opening beneath it. The stone was extracted in 2 pieces via mechanical lithotripsy. Endoscopic ultrasound of the CBD revealed Rigler's triad.
Conclusion:
Bouveret syndrome is mostly associated with cholecystoduodenal fistula and has high mortality and morbidity due to underlying comorbid conditions and elderly age. Patients are not always fit for surgical management, and endoscopic management is not always successful.
Undetected Severe Fetal Myelosuppression following Administration of High-Dose Cytarabine for Acute Myeloid Leukemia: Is More Frequent Surveillance Necessary?
Authors: Jessica Parrott, Marium Holland
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Background:
Cytarabine use during pregnancy carries a 5-7% risk of neonatal cytopenia. We report two cases of fetal myelosuppression following high-dose cytarabine administration for acute myeloid leukemia (AML).
Case 1:
A 36-year-old G9P6 diagnosed with AML at 21 weeks was monitored for fetal anemia weekly and growth monthly. At 33 weeks (after 2 cycles), BPP was 2/10 and MCA PSV was elevated at 1.51 MoM. Urgent cesarean section was performed. The infant had an initial pH of 6.78 and pancytopenia (hematocrit 13.3%, platelets 3 K/UL, and white blood cell count 2.0 K/UL). Initially transfusion dependent, the neonate had count recovery by 3 weeks.
Case 2:
A 30-year-old G4P3 with AML at 26 weeks was monitored for fetal anemia twice weekly and growth monthly. At 34 weeks (after cycle 1), she was admitted with neutropenic fever. The fetal MCA PSV was borderline at 1.48 MoM. It improved to 1.38 MoM at 35 weeks but the fetal tracing worsened. At delivery the fetus was found to have a hematocrit of 30%, but with normal platelet and WBC. The fetus did not require any transfusions.
Conclusion:
Cytarabine use during pregnancy may cause neonatal myelosuppression. We recommend monitoring for fetal anemia with MCA Dopplers twice weekly.
Laryngeal suspension, combined with rehabilitation and nutritional support, improved the clinical course of a patient with sarcopenic dysphasia
Authors: Ken Kasahara, Keisuke Okubo, Jun Morikawa
Journal: Int J Surg Case Rep (2020)
Keywords: inactivity, laryngeal suspension, malnutrition, rehabilitation, sarcopenic dysphasia
MeSH terms: Case Reports

Introduction:
Sarcopenic dysphasia is a relatively new disease concept describing impairments in swallowing resulting from a generalized loss of skeletal muscle mass.
Presentation of case:
In this case report, we describe the clinical history and presentation of a 76-year-old man who developed mild sarcopenic dysphasia following a period of physical inactivity after spinal stenosis surgery, which resulted in a loss of 10 kg of body weight in the 10-month period after surgery. The patient's dysphasia was managed with laryngeal suspension, performed via a minimally invasive thyromandibulopexy, in combination with rehabilitation and nutritional support. After a brief period of postoperative rehabilitation, the patient was able to eat soft meals on postoperative day 14, and a regular meal on postoperative day 18, without aspiration. We include a brief description of our surgical technique in the case report.
Discussion:
Laryngeal suspension compensated for a decreased functional capacity of the swallowing muscles, with postoperative rehabilitation improving the strength of the swallowing muscles. Fixation of the thyroid cartilage to the mandible compensated for insufficient opening of the esophageal orifice, decreasing the pyriform sinus residue. Drawing of the thyroid cartilage in an anterosuperior position improved the anterosuperior position of the epiglottis, shortening the distance between the epiglottis and the base of the tongue, which narrowed the vallecula space and decreased vallecular residue.
Conclusion:
Based on our experience, laryngeal suspension, via minimally invasive thyromandibulopexy, could be considered to improve the outcomes of sarcopenic dysphagia, with an earlier return to eating normal meals.
Localized Langerhans cell histiocytosis masquerading as Brodie's abscess in a 2-year-old child: a case report
Authors: Wei-Fang Chang, Yi-Chih Hsu, Yi-Der Wu, Chun-Lang Kuo, Guo-Shu Huang
Journal: EXCLI J (2016)
Keywords: brodie's abscess, langerhans cell histiocytosis, differential diagnosis, knee pain, penumbra sign
MeSH terms: Case Reports

Langerhans cell histiocytosis (LCH), formerly known as histiocytosis X, refers to a spectrum of diseases characterized by idiopathic proliferation of histiocytes that produce either focal (localized LCH) or systemic manifestations (Hand-Schüller-Christian disease and Letterer-Siwe disease). Localized LCH accounts for approximately 60-70 % of all LCH cases. Osseous involvement is the most common manifestation and typically involves the flat bones, along with lesions of the skull, pelvis, and ribs. Localized LCH in bone shows a wide spectrum of clinical manifestations and radiologic features that may mimic those of infections as well as benign and malignant tumors. The diagnostic imaging findings of localized LCH are also diverse and challenging. The penumbra sign is a common and characteristic magnetic resonance imaging (MRI) feature of Brodie's abscess, but is rarely seen in localized LCH. In this report, we describe a case of localized LCH misdiagnosed as Brodie's abscess in a 2-year-old child based on clinical symptoms, laboratory findings, and pre-diagnostic MRI findings (penumbra sign). Therefore, the penumbra sign is not sufficient to clearly establish the diagnosis of Brodie's abscess, and the differential diagnosis of localized LCH should be considered when a child with an osteolytic lesion presents with a penumbra sign.
Streptococcus agalactiae Meningitis in Adult Patient: A Case Report and Literature Review
Authors: Fahmi Yousef Khan
Journal: Case Rep Infect Dis (2016)

We report a case of group B streptococcus meningitis in a 72-year-old female patient who was admitted in our hospital with a 21-day history of bilateral lower thigh pain and swelling associated with fever, headache, and vomiting. Her past medical history was remarkable for DM type 2, hypertension, and hypothyroidism. Upon admission, examination showed bilateral warmth and tender soft tissue swelling around the knees and MRI showed cellulitis of distal thirds of both thighs. The next day, the patient became drowsy. Neurologic examination showed neck rigidity and right sided hemiparesis. Cerebrospinal fluid and blood cultures yielded group B streptococcus sensitive to ceftriaxone, penicillin G, and vancomycin. The patient received ceftriaxone for a total of 14 days after which she improved and was discharged from the hospital with right sided weakness.
Atypical Autoimmune Encephalitis With Neuropil Antibodies Against a Yet Unknown Epitope
Authors: Sharmili Edwin Thanarajah, Harald Prüss, Clemens Warnke, Michael T Barbe, Michael Schroeter, Gereon R Fink, Oezguer A Onur
Journal: Front Neurol (2019)
Keywords: autoimmune, cerebellitis, encephalitis, neuropil, plasmapheresis
MeSH terms: Case Reports

Autoimmune encephalitis often causes acute psychiatric symptoms and epileptic seizures. However, it is becoming increasingly clear that depending on the target antigen both symptoms and disease severity may vary. Furthermore, the identification and characterization of antibody subtypes are highly relevant for personalizing the treatment and to prevent relapses. Here we present an atypical case of encephalitis with cerebellar and temporal dysfunction but without seizures associated with high levels of cerebrospinal fluid neuropil antibodies against a yet unknown epitope on the neuronal surface in the cerebellum, hippocampus, thalamus, and the olfactory bulb. We treated the patient successfully with corticosteroids, plasmapheresis, and rituximab.
Successful Management of Immune Thrombocytopenia Presenting with Lethal Alveolar Hemorrhage
Authors: Keiki Nagaharu, Masahiro Masuya, Keiki Kawakami, Naoyuki Katayama
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Immune thrombocytopenic purpura (ITP) typically presents with bleeding due to immunologic thrombocytopenia. Severe hemorrhage due to ITP is sometimes lethal, and the urgent recovery of platelets is necessary. In addition to conventional therapeutic strategies, romiplostim shows promising efficacy for chronic ITP. However, there is little evidence for the utilization of this treatment for acute ITP or acute exacerbation of chronic ITP. We report the case details of three elderly ITP patients presenting with lethal diffuse alveolar hemorrhage. These patients had the following underlying pulmonary diseases: case 1, nontuberculous mycobacterial infection and sarcoidosis; case 2, cryptogenic organizing pneumonia; case 3, pulmonary emphysema. These patients recovered following treatment with romiplostim at a higher dose (10 μg/kg), in addition to conventional therapies including corticosteroids and high-dose intravenous immunoglobulin. In summary, the addition of romiplostim resulted in earlier recovery of thrombocytopenia than has been previously reported. Our three cases suggest that early romiplostim at a higher dose could be an efficacious therapeutic option for acute ITP patients with severe lethal bleeding.