OpenMed/multicare-articles huggingface dataset:
Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family
Authors: Xingchao Shentu, Qi Miao, Xiajing Tang, Houfa Yin, Yingying Zhao
Journal: PLoS One (2015)
MeSH terms: Aquaporins / genetics, Cataract / congenital, Cataract / genetics, Eye Proteins / genetics, Lens, Crystalline / metabolism, Case Reports, Research Support, Non-U.S. Gov't, Amino Acid Sequence, Amino Acid Substitution / genetics, Asian People, Blindness / congenital, Blindness / genetics, Cell Line, Tumor, Cell Membrane / metabolism, China, Female, Fluorescent Antibody Technique, Genetic Linkage, HEK293 Cells, Haplotypes, HeLa Cells, Humans, Male, Microsatellite Repeats / genetics, Middle Aged, Mutation, Missense / genetics, Protein Structure, Tertiary, Protein Transport / genetics, Sequence Alignment, Aquaporins, Eye Proteins, aquaporin 0

Congenital cataracts are major cause of visual impairment and blindness in children and previous studies have shown about 1/3 of non-syndromic congenital cataracts are inherited. Major intrinsic protein of the lens (MIP), also known as AQP0, plays a critical role in transparency and development of the lens. To date, more than 10 mutations in MIP have been linked to hereditary cataracts in humans. In this study, we investigated the genetic and functional defects underlying a four-generation Chinese family affected with congenital progressive cortical punctate cataract. Mutation screening of the candidate genes revealed a missense mutation at position 448 (c.448G>C) of MIP, which resulted in the substitution of a conserved aspartic acid with histidine at codon 150 (p.D150H). By linkage and haplotype analysis, we obtained positive multipoint logarithm of odds (LOD) scores at microsatellite markers D12S1632 (Zmax = 1.804 at α = 1.000) and D12S1691 (Zmax = 1.806 at α = 1.000), which flanked the candidate locus. The prediction results of PolyPhen-2 and SIFT indicated that the p.D150H mutation was likely to damage to the structure and function of AQP0. The wild type and p.D150H mutant AQP0 were expressed in HeLa cells separately and the immunofluorescence results showed that the WT-AQP0 distributed at the plasma membrane and in cytoplasm, while AQP0-D150H failed to reach the plasma membrane and was mainly retained in the Golgi apparatus. Moreover, protein levels of AQP0-D150H were significantly lower than those of wide type AQP0 in membrane-enriched lysates when the HEK-293T cells were transfected with the same amount of wild type and mutant plasmids individually. Taken together, our data suggest the p.D150H mutation is a novel disease-causing mutation in MIP, which leads to congenital progressive cortical punctate cataract by impairing the trafficking mechanism of AQP0.
FLT3 Amplification as Double Minute Chromosomes in a Patient with Chronic Myelomonocytic Leukemia
Authors: Heyang Zhang, Xiaoxue Wang, Shibo Li, Xianfu Wang, Xianglan Lu, Ming Li, Hua Wang, Ying Liu, Hui Pang, Lijun Zhang
Journal: Dis Markers (2021)
MeSH terms: Gene Amplification, Leukemia, Myelomonocytic, Chronic / genetics, fms-Like Tyrosine Kinase 3 / genetics, Case Reports, Comparative Genomic Hybridization, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Male, Middle Aged, Ring Chromosomes, FLT3 protein, human, fms-Like Tyrosine Kinase 3

Double minute chromosomes (dmins) are a form of gene amplification presenting as small spherical paired chromatin bodies. Dmins are rare in hematologic malignancies and are generally associated with a poor prognosis. Some case reports identified MYC or MLL gene amplification performing as dmin in myeloid neoplasms. FLT3 (FMS-related tyrosine kinase 3) acts as an oncogene in myeloid neoplasms which is associated with several signal transduction pathways. Genomic amplification of FLT3 has not been reported in hematological disease. The current study attempts to demonstrate the existence of double minute chromosomes via FLT3 gene amplification in a patient diagnosed with chronic myelomonocytic leukemia (CMML). Routine G-banded karyotype, array-based comparative genomic hybridization, and fluorescence in situ hybridization analyses were used to characterize the cytogenetic abnormality in the patient's bone marrow. FLT3 amplification as dmins in a patient with CMML was revealed. This case study reports a rare double minute chromosome via FLT3 amplification in CMML by using array-based comparative genomic hybridization and fluorescence in situ hybridization analyses. The study also proposed another possible mechanism of FLT3 genes in leukemogenesis.
Acute Babesiosis Causing a False-Positive HIV Result: An Unexpected Association
Authors: Jody Z He, Montasin Rezwan, Aneela Arif, Saada Baroud, Mohamed Elhaj, Aizaaz Khan
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Babesiosis is a tick-borne condition that causes hemolytic anemia and manifests with flu-like symptoms such as fevers, chills, fatigue, and anorexia. Very few case reports have documented babesiosis infection associated with a false-positive HIV test. In this case report, we add to the current literature by describing a patient admitted for treatment of babesiosis who had a preliminary positive HIV test on admission and a negative repeat HIV test after one week of treatment for babesiosis. A 60-year-old male with a past medical history of high cholesterol presented to the Emergency Department after having abnormal laboratory tests with his primary care doctor. He reported fever, fatigue, anorexia, and worsening jaundice for three weeks. He was hypotensive and febrile on admission. A blood smear showed Babesia species with 1-2% infected red blood cells. He was admitted to the intensive care unit and received treatment with plasmapheresis, atovaquone, and antibiotics. The fourth-generation HIV 1/2 antigen/antibody test was initially positive but after treatment, HIV testing was negative. A misdiagnosis of HIV can greatly impact a patient's quality of life as antiretroviral therapy has multiple deleterious side effects. Clinicians must consider further evaluation of patients with acute babesiosis who also test positive for HIV.
Feminizing the Face: Combination of Frontal Bone Reduction and Reduction Rhinoplasty
Authors: C J Salgado, H AlQattan, A Nugent, D Gerth, W Kassira, C S McGee, L Wo
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Gender affirmation surgeries in male-to-female patient transitioning include breast augmentation, genital construction, and facial feminization surgery (FFS). FFS improves mental health and quality of life in transgender patients. The nose and forehead are critical in facial attractiveness and gender identity; thus, frontal brow reduction and rhinoplasty are a mainstay of FFS. The open approach to reduction of the frontal brow is very successful in the feminization of the face; however, risks include alopecia and scarring. Endoscopic brow reduction, in properly selected patients, is minimally invasive with excellent outcomes avoiding these risks. Since both reduction rhinoplasty and frontal brow reduction are routinely performed in FFS, a combined approach provides superior control over the nasal radix and profile when performing surgery on the frontal bone region first followed by nose reduction. We present a case series of four transwomen undergoing frontal bone reduction in combination with a reduction rhinoplasty. All had excellent results with one DVT that resolved with treatment. Transgender patients frequently require multiple operations during their transition increasing their hospital stay and costs. This combined approach offers superior control over the nasofrontal angle and is not only safe but reduces hospitalizations and costs and is a novel indication to reduce gender dysphoria.
Care for Amish and Mennonite children with cystic fibrosis: a case series
Authors: Jonathan F Henderson, Ran D Anbar
Journal: BMC Pediatr (2009)
MeSH terms: Anti-Bacterial Agents / administration & dosage, Cystic Fibrosis / complications, Cystic Fibrosis / therapy, Home Care Services, Case Reports, Child, Preschool, Christianity, Humans, Immunization / methods, Infant, Injections, Intravenous / methods, Male, New York, Patient-Centered Care / organization & administration, Socioeconomic Factors, Anti-Bacterial Agents

Background:
Published articles have described a lack of willingness to allow preventative measures, as well as other types of modern therapies, as an obstacle to providing medical care for Amish and Mennonite populations.
Methods:
We present data regarding the 12 Amish and Mennonite patients at the SUNY Upstate Medical University Pediatric Cystic Fibrosis Center and three representative case reports.
Results:
Families of patients from these communities receiving care at our Center have accepted preventive therapy, acute medical interventions including home intravenous antibiotic administration, and some immunizations for their children with cystic fibrosis, which have improved the health of our patients. Some have even participated in clinical research trials. Health care education for both the child and family is warranted and extensive. Significant Cystic Fibrosis Center personnel time and fundraising are needed in order to address medical bills incurred by uninsured Amish and Mennonite patients.
Conclusion:
Amish and Mennonite families seeking care for cystic fibrosis may choose to utilize modern medical therapies for their children, with resultant significant improvement in outcome.
Respiratory Epithelial Orbital Cyst: A Case Report and Literature Review
Authors: Sally Al Abdulmohsen, Ayman Ayoubi, Sadeq Al-Dandan
Journal: Case Rep Pathol (2018)
MeSH terms: Case Reports

A 44-year-old male with schizophrenia presented with progressive right proptosis for one year and conjunctivitis for two months. An orbital cyst was seen in the superotemporal region on computerized tomography and was surgically removed. There was no history or radiological signs of paranasal sinus disease or previous trauma. Histopathologic evaluation revealed a cyst lined with respiratory epithelium. Respiratory choristomatous cysts of the orbit are considered rare in both pediatric and adult patients. We review the literature of respiratory orbital cysts and conclude that they tend to present in adults and should be considered in the differential diagnoses of orbital cysts.
Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille Syndrome
Authors: Siobhan Delaney, Ged O'Connor, William Reardon, Stephen J X Murphy, Sean Tierney, Barbara M Ryan, Holly Delaney, Colin P Doherty, Michael Guiney, Paul Brennan, W Oliver Tobin, Dominick J H McCabe
Journal: Front Neurol (2019)
Keywords: alagille syndrome (ags), jag1 gene, internal carotid artery (ica), moyamoya phenomenon, transient ischaemic attack
MeSH terms: Case Reports

Background: Alagille syndrome (AGS) is an autosomal-dominant, multisystem disorder caused by mutations in the JAG1 gene. Case Description: A 34-year-old man was referred to our service 10 years ago with focal seizures with impaired awareness and transient slurred speech. He had a 5-year history of intermittent left monocular low-flow retinopathy. He has a family history of AGS. General examination revealed mild hypertension, aortic regurgitation, and livedo reticularis. Neurological examination was normal. Investigations: He had mild hyperlipidaemia and persistently-positive lupus anticoagulant consistent with primary anti-phospholipid syndrome. Color Doppler ultrasound revealed low velocity flow in a narrowed extracranial left internal carotid artery (ICA). MR and CT angiography revealed a diffusely narrowed extracranial and intracranial left ICA. Formal cerebral angiography confirmed severe left ICA narrowing consistent with a left ICA "vasculopathy" and moyamoya phenomenon. Transthoracic echocardiogram revealed a bicuspid aortic valve and aortic incompetence. Molecular genetic analysis identified a missense mutation (A211P) in exon 4 of the JAG1 gene, consistent with AGS. Discussion: AGS should be considered in young adults with TIAs/stroke and unexplained extracranial or intracranial vascular abnormalities, and/or moyamoya phenomenon, even in the absence of other typical phenotypic features. Gene panels should include JAG1 gene testing in similar patients.
The adventitia resection in treatment of liver hydatid cyst: a case report of a 15-year-old boy
Authors: Zhenhua Ma, Wei Yang, Yingmin Yao, Qingguang Liu
Journal: Case Rep Surg (2014)

Human hydatid disease is a significant health problem in endemic regions caused by the larval form of Echinococcus granulosus. In this paper, we report a case of liver hydatid cyst. The patient, a 15-year-old boy, presented with a history of intermittent upper abdominal pain of a few-month duration was referred to our hospital for investigation. Computed tomographic scan and laboratory test suggested a hydatid cyst in the right lobe of liver. The adventitia resection of hydatid cyst was smoothly performed as there was a less bloody virtual space between adventitia and outer membrane. Our diagnosis was made using an imaging approach and was confirmed during surgery. We proposed the adventitia resection of hydatid cyst could be safe and easy to perform with low risk of bleeding and bile leakage.
Reversal of Toric Intraocular Lens-corrected Corneal Astigmatism after Kahook Dual Blade Goniotomy
Authors: Matthew T Hirabayashi, Lindsey M McDaniel, Jella A An
Journal: J Curr Glaucoma Pract (2019)
Keywords: astigmatism, kahook dual blade, phaco, toric
MeSH terms: Case Reports

A 79-year-old man underwent phacoemulsification (phaco) with TORIC intraocular lens (IOL) insertion combined with Kahook dual blade (KDB) goniotomy of the right eye several months after a stand-alone phaco in the fellow eye. He had significant against-the-rule astigmatism in both eyes (2.41D @ 10° right, 2.40D @ 160° left) preoperatively. Postoperatively, nearly all corneal astigmatism disappeared in the right eye (0.60D @ 37°), while it remained the same in the left eye (2.00D @ 167°). Ophthalmologists should be aware that KDB may have an unreported effect of altering corneal astigmatism, which should be considered when inserting TORIC IOL.
How to cite this article:
Hirabayashi MT, McDaniel LM, et al. Reversal of Toric Intraocular Lens-corrected Corneal Astigmatism after Kahook Dual Blade Goniotomy. J Curr Glaucoma Pract 2019;13(1):42-44.
Laparoscopic splenectomy to salvage renal transplants from severe acute antibody-mediated rejection
Authors: Michael Latzko, Sakshi Jasra, Sana Akbar, Harry Sun, Sadanand Palekar
Journal: Case Rep Transplant (2012)

Purpose. Acute antibody-mediated rejection, a complication of cross match positive and sensitized renal transplants, occurs despite the use of standard desensitization protocols. Rescue therapy consists of plasmapheresis and intravenous immunoglobulin (IVIg). In patients with preformed donor specific antibodies, rejection can be aggressive. We report here a case in which laparoscopic splenectomy was added to the standard rescue regimen. Case Report and Results. A 40-year-old Hispanic female with end stage renal disease had been receiving hemodialysis. The patient had numerous class 1 unacceptable antigens. She was scheduled to undergo an incompatible 1-1-1 mismatch living related donor kidney transplant. Preoperatively, the patient received plasmapheresis, IVIG, and thymoglobulin. There was good graft function until postoperative day 5. At that point, worsening renal function was noted. Renal biopsy was consistent with AMR. The patient became anuric and dialysis was initiated. To salvage the transplant, the patient underwent laparoscopic splenectomy. Postoperatively, renal function improved. Two years after transplant, the patient continues to have excellent graft function. Conclusion. In a small but significant number of renal transplants, antibody production occurs at a rate that traditional treatments are unable to reduce effectively. Based on our experience, the addition of splenectomy to standard rescue therapy can salvage renal transplants.
Case Report: "Methicillin-Resistant Staphylococcus aureus Endocarditis Overlying Calcified Mitral Annular Abscess Misdiagnosed as Klebsiella pneumoniae Endocarditis"
Authors: Hiroyuki Yamamoto, Katsuya Hashimoto, Hiroyuki Yamada, Yoshihiko Ikeda, Takashi Takahashi, Toru Hashimoto
Journal: Front Microbiol (2022)
Keywords: duke criteria, mac, mrsa, tee, dual bacteremia, infective endocarditis, mitral annular abscess
MeSH terms: Case Reports

Infective endocarditis (IE) involving mitral annular calcification (MAC) is a rare disease, but is potentially lethal due to frequent serious periannular complications, and therefore requires early diagnosis and prompt treatment. However, either reaching the correct diagnosis or the detection of periannular complications, even with conventional transesophageal echocardiography (TEE), remains challenging because calcium deposition obscures clear visualization of the area around the MAC. We describe a unique case of methicillin-resistant Staphylococcus aureus (MRSA) IE involving a calcified mitral annular abscess, which was initially misdiagnosed as Klebsiella pneumoniae IE. Accurate diagnosis of MAC-related IE as well as detection of the annular abscess were made possible by 4D TEE, leading to successful cardiac surgery, which confirmed MRSA IE pathologically, and the associated annular abscess. This case highlights the usefulness of 4D TEE for the accurate diagnosis and proper surgical planning. In addition, this case raises the limitations of the modified Duke criteria in cases of definite IE with dual bacteremia.
Body dysmorphic disorder: A diagnostic challenge in adolescence
Authors: Yanga Thungana, Karis Moxley, Anusha Lachman
Journal: S Afr J Psychiatr (2018)
MeSH terms: Case Reports

Body dysmorphic disorder (BDD) is a chronic and disabling condition that is characterised by distressing preoccupations with perceived defects in one's own appearance, which might be slight or not observable to others. It is considered to be an obsessive-compulsive spectrum disorder and is associated with depression, feelings of shame and poor quality of life. It is primarily a disorder of childhood or adolescent onset, and sub-clinical BDD symptoms begin, on average, several years before an individual's symptoms meet full criteria for the disorder. Here we report the case of an adolescent admitted to an inpatient psychiatric unit for treatment of psychotic symptoms that were poorly responsive to standard treatments. This challenging case of BDD in an adolescent highlights the various comorbidities of the disorder, as well as the difficulties associated with BDD diagnosis.
Vertical transmission of maternal COVID-19 antibodies after CoronaVac vaccine: A case report
Authors: Bruno Thizon Menegali, Fabiana Schuelter-Trevisol, Alexandre Naime Barbosa, Talita Menegali Izidoro, Otto Henrique May Feurschuette, Chaiana Esmeraldino Mendes Marcon, Daisson José Trevisol
Journal: Rev Soc Bras Med Trop (2021)
MeSH terms: COVID-19, Pregnancy Complications, Infectious, Vaccines, Case Reports, Female, Humans, Infant, Newborn, Infectious Disease Transmission, Vertical / prevention & control, Pregnancy, SARS-CoV-2, Vaccines

The use of coronavirus disease 2019 RNA vaccines in pregnant women led to reports on the first cases of newborns with antibodies to sudden acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a phenomenon that was unknown when using immunizations with inactivated viruses. Thus, this study aimed to report a case of passive anti-SARS-CoV-2 immunity in a newborn through immunoprophylaxis of a pregnant woman who received the CoronaVac® vaccine in the third trimester of pregnancy. Twenty-four hours after delivery, samples were collected from the newborn and screened by enzyme immunoassays, which revealed antibodies to SARS-CoV-2.
Transesophageal echocardiography: a tool for intraoperative assessment of coronary blood flow
Authors: Pankaj Garg, Ishaq J Wadiwala, Lekhya Raavi, Nargis Mateen, Juan Crestanello, Si M Pham, Samuel Jacob
Journal: J Surg Case Rep (2023)
Keywords: bentall, aortic valve replacement, coronary artery obstruction, transesophageal echocardiography (tee)

Transesophageal echocardiography (TEE) has become an indispensable part of cardiac surgery, but its potential for assessing coronary anatomy and blood flow remains underutilised. This case report presents a case of acute iatrogenic left main coronary artery obstruction following re-operative aortic valve replacement that was promptly diagnosed by intraoperative TEE and managed successfully by Bentall operation. We also emphasise the technique of TEE for coronary evaluation, its caveats and its clinical application during cardiac surgery.
Heparin-induced hyperkalemia in an extremely-low-birth-weight infant: a case report
Authors: Tomoyuki Shimokaze, Kazuhiro Akaba, Emi Saito
Journal: J Clin Res Pediatr Endocrinol (2014)
MeSH terms: Heparin / adverse effects, Hyperkalemia / chemically induced, Infant, Very Low Birth Weight, Case Reports, Anticoagulants / therapeutic use, Dalteparin / therapeutic use, Female, Humans, Infant, Newborn, Anticoagulants, Heparin, Dalteparin

Heparin may cause hyperkalemia by blocking aldosterone biosynthesis in the adrenal gland. Dizygotic twin sisters were born by Cesarean section at 25 weeks' gestation. The younger sister developed acute hyperkalemia (7.4 mEq/L) at 10 days of age. At the time of the development of the hyperkalemia, there were no signs of systemic infection, cardiac or renal failure, adrenal insufficiency, or sudden anemia. She was receiving no medication other than heparin to maintain the vascular catheter. Heparin was changed to dalteparin at 12 days of age. The plasma potassium level normalized after 14 days of age. After this change, the urinary potassium concentration and the aldosterone and plasma renin activity increased. The urinary aldosterone levels before and after the changes were 31 and 183 pg/μg creatinine, respectively. When heparin-induced hyperkalemia is suspected, stopping the heparin administration facilitates diagnosis and treatment; if anticoagulant therapy is required; one treatment option is changing from unfractionated heparin to low-molecular-weight heparin.
Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for congenital cystic adenomatoid malformation of the lung
Authors: Ahmet Gul, Halil Aslan, Altan Cebeci, Yavuz Ceylan, Ali Ismet Tekirdag
Journal: Reprod Health (2005)

BACKGROUND: Spontaneous monochorionic triamniotic pregnancy is rare and is at increased risk for pregnancy complications. The presence of an anomalous fetus further complicates the management. CASE PRESENTATION: We present a case of monochorionic triamniotic triplet pregnancy diagnosed at 15 weeks of gestation with one fetus having developed a multicystic lung lesion, suggestive of congenital cystic adenomatoid malformation (CCAM). At 24 weeks, the largest cyst measured 10 mm in diameter. We managed the pregnancy conservatively and delivered three live male fetuses with birth weights 1560 g, 1580 g and 1590 g at 35 weeks of gestation. Two newborns were admitted to the neonatal intensive care unit with respiratory distress, the third one died due to sepsis 7 days postpartum. One of the newborns was discharged healthy at 24 days postpartum. The newborn with CCAM developed a pneumothorax on the right side, recovered after treatment, and was discharged after one month. Computerized tomography (CT) of the infant at 3 months demonstrated two cystic lesions in the middle lobe of the right lung measuring 25 mm and 15 mm. A repeat CT of the infant at 6 months showed a 30 mm solitary cystic mass. CONCLUSION: Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for CCAM, present rarely and can be managed conservatively. These findings may help in decision making and counselling of parents.