OpenMed/multicare-articles huggingface dataset:
Autologous full-thickness RPE-choroid graft to treat high-risk drusenoid pigment epithelial detachment without CNV
Authors: Hedwig Sillen, Joke Ruys, Pieter-Paul Schauwvlieghe, Marc Veckeneer
Journal: GMS Ophthalmol Cases (2020)
Keywords: rpe-choroid graft, drusenoid pigment epithelial detachment, macular degeneration, retinal pigment epithelium
MeSH terms: Case Reports

Objective: To report on the survival of a retinal pigment epithelium (RPE)-choroid graft translocated to treat a patient with drusenoid pigment epithelial detachment (DPED). Methods: We describe a patient with bilateral high-risk DPED where one eye was treated with RPE-choroid translocation surgery and followed up for more than two years. Results: The RPE-choroid graft surgery was straightforward and the fully perfused graft was able to support stable vision of 0.5 Snellen acuity for more than two years despite the development of a choroidal neovessel at the edge of the graft. The vision in the fellow eye dropped from 0.5 to 0.2 Snellen in the same period. Conclusion: RPE-choroid translocation may slow the progression of DPED to atrophy but it can also transform dry age-related macular degeneration (AMD) into neovascular AMD.
Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)-Long-Term Follow-Up of a Patient and Literature Review
Authors: Matej Mlinaric, Nevenka Bratanic, Vlasta Dragos, Ajda Skarlovnik, Matija Cevc, Tadej Battelino, Urh Groselj
Journal: Front Pediatr (2020)
Keywords: hofh, ldl-apheresis, slovenia, fh, homozygous familial hypercholesterolemia, liver transplantation, review
MeSH terms: Case Reports

Homozygous familial hypercholesterolemia (HoFH) is a rare inherited metabolic disorder, frequently leading to an early cardiovascular death if not adequately treated. Since standard medications usually fail to reduce LDL-cholesterol (LDL-C) levels satisfactorily, LDL-apheresis is a mainstay of managing HoFH patients but, at the same time, very burdensome and suboptimally effective. Liver transplantation (LT) has been previously shown to be a promising alternative. We report on a 14 year-long follow-up after LT in a HoFH patient. At the age of 4, the patient was referred to our institution because of the gradually increasing number of xanthomas on the knees, elbows, buttocks, and later the homozygous mutation c.1754T>C (p.Ile585Thr) on the LDL-receptor gene was confirmed. Despite subsequent intensive treatment with the combination of diet, statins, bile acid sequestrant, probucol, and LDL-apheresis, the patient developed valvular aortic stenosis and aortic regurgitation by 12 years. At 16 years, the patient successfully underwent deceased-donor orthotopic LT. Nine years post-LT, we found total regression of the cutaneous xanthomas and atherosclerotic plaques and with normal endothelial function. Fourteen years post-LT, his clinical condition remained stable, but LDL-C levels have progressively risen. In addition, a systematic review of the literature and guidelines on the LT for HoFH patients was performed. Six of the 17 identified guidelines did not take LT as a treatment option in consideration at all. But still the majority of guidelines suggest LT as an exceptional therapeutic option or as the last resort option when all the other treatment options are inadequate or not tolerated. Most of the observed patients had some kind of cardiovascular disease before the LT. In 76% of LT, the cardiovascular burden did not progress after LT. According to our experience and in several other reported cases, the LDL-C levels are slowly increasing over time post LT. Most of the follow-up data were short termed; only a few case reports have followed patients for 10 or more years after LT. LT is a feasible therapeutic option for HoFH patients, reversing atherosclerotic changes uncontrollable by conservative therapy, thus importantly improving the HoFH patient's prognosis and quality of life.
Perforation of gastric volvulus within a giant hiatus hernia secondary to alendronate: A rare complication of bisphosphonate use
Authors: Bianca Kwan, Jason Wong
Journal: Int J Surg Case Rep (2020)
Keywords: alendronate, bisphosphonates, case report, massive hiatus hernia, perforated gastric volvulus
MeSH terms: Case Reports

Introduction:
Bisphosphonates are commonly used in the treatment of metabolic bone disease. However, they are associated with gastrointestinal side effects including acid reflux, mucosal erosion, and oesophageal stricture. We present a rare case of alendronate causing perforated gastric volvulus in a patient with giant hiatus hernia.
Presentation of case:
An 82-year-old woman presented to our hospital with central chest pain, palpitations and new onset atrial fibrillation on the background of 2 weeks of vomiting. Computed tomography (CT) imaging revealed a perforated, mixed type organoaxial/mesoenteroaxial gastric volvulus within a giant hiatus hernia, with partial gastric outlet obstruction. The patient underwent laparoscopic reduction of hiatus hernia and gastric volvulus, conversion to laparotomy, and distal gastrectomy with Bilroth II reconstruction. An alendronate tablet was found in the right mediastinum. The patient had a prolonged post-operative course and was discharged home after completing extensive physical rehabilitation.
Discussion:
Bisphosphonates are widely used to treat metabolic bone disease, however can have devastating adverse effects on the gastrointestinal tract. There are a number of mechanisms postulated for how these medications cause injury to the gastric and oesophageal mucosa.
Conclusion:
This case illustrates the importance of considering the gastrointestinal effects associated with bisphosphonates when prescribing them to patients, especially those with functional or anatomical disorders of the gastrointestinal tract. The presence of a large hiatus hernia should be a contraindication to prescribing alendronate.
A Large Intrathoracic Hiatal Hernia as a Cause of Complete Heart Block
Authors: Ali Abbood, Hareer Al Salihi, Jorge Parellada, Mario Madruga, S J Carlan
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Hiatal hernia is a not uncommon anatomic disorder resulting in portions of the bowel occupying space in the thoracic cavity. There are a number of antecedent risk factors including obesity but not hiatal hernias resulting in symptoms. When symptoms do occur, they can include chest pain, nausea, abdominal pain, and gastroesophageal reflux. Cardiac arrhythmias have also been reported as associated conditions resulting from a hiatal hernia. To date, however, a complete heart block secondary to a hiatal hernia has not been reported. An 88-year-old female with a history of GERD (gastroesophageal reflux disease) was found to have a large hiatal hernia at endoscopy after she presented to the emergency department with nausea and abdominal pain. Prior to her scheduled surgical repair, she developed symptomatic third degree heart block which resolved with nasogastric tube deflation of the gastric contents. After surgical repair of the hiatal hernia, she developed episodes of atrial fibrillation with rapid ventricular response and was started on diltiazem. She eventually converted back to normal sinus rhythm and remained dysrhythmia free. In addition to other known arrhythmias associated with hiatal hernia, a complete heart block can also be seen. Acute management requires deflation of the chest occupying hernia. This appears to be the one of the first reported cases of complete heart block caused by hiatal hernia.
Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract
Authors: Vanita Vanita, Jai Rup Singh, Daljit Singh, Raymonda Varon, Karl Sperling
Journal: Mol Vis (2009)
MeSH terms: Cataract / congenital, Cataract / genetics, Mutation, Missense, gamma-Crystallins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Amino Acid Sequence, Amino Acid Substitution, Base Sequence, Case-Control Studies, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 3 / genetics, DNA / genetics, DNA Mutational Analysis, Female, Genes, Dominant, Humans, India, Male, Molecular Sequence Data, Pedigree, Sequence Homology, Amino Acid, gamma-Crystallins, CRYGS protein, human, DNA

Purpose:
To identify the underlying genetic defect in a north Indian family with seven members in three-generations affected with bilateral congenital cataract.
Methods:
Detailed family history and clinical data were recorded. Linkage analysis using fluorescently labeled microsatellite markers for the already known candidate gene loci was performed in combination with mutation screening by bidirectional sequencing.
Results:
Affected individuals had bilateral congenital cataract. Cataract was of opalescent type with the central nuclear region denser than the periphery. Linkage was excluded for the known cataract candidate gene loci at 1p34-36, 1q21-25 (gap junction protein, alpha 8 [GJA8]), 2q33-36 (crystallin, gamma A [CRYGA], crystallin, gamma B [CRYGB], crystallin, gamma C [CRYGC], crystallin, gamma D [CRYGD], crystallin, beta A2 [CRYBA2]), 3q21-22 (beaded filament structural protein 2, phakinin [BFSP2]), 12q12-14 (aquaporin 0 [AQP0]), 13q11-13 (gap junction protein, alpha 3 [GJA3]), 15q21-22, 16q22-23 (v-maf musculoaponeurotic fibrosarcoma oncogene homolog [MAF], heat shock transcription factor 4 [HSF4]), 17q11-12 (crystallin, beta A1 [CRYBA1]), 17q24, 21q22.3 (crystallin, alpha A [CRYAA]), and 22q11.2 (crystallin, beta B1 [CRYBB1], crystallin, beta B2 [CRYBB2], crystallin, beta B3 [CRYBB3], crystallin, beta A4 [CRYBA4]). Crystallin, alpha B (CRYAB) at chromosome 11q23-24 was excluded by sequence analysis. However, sequencing the candidate gene, crystallin, gamma S (CRYGS), at chromosome 3q26.3-qter showed a heterozygous c.176G-->A change that resulted in the replacement of a structurally highly conserved valine by methionine at codon 42 (p.V42M). This sequence change was not observed in unaffected family members or in the 100 ethnically matched controls.
Conclusions:
We report a novel missense mutation, p.V42M, in CRYGS associated with bilateral congenital cataract in a family of Indian origin. This is the third report of a mutation in this exceptional member of the beta-/gamma-crystallin superfamily and further substantiates the genetic and clinical heterogeneity of autosomal dominant cataract.
Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome
Authors: Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
Journal: Mol Cytogenet (2017)
Keywords: dysmorphology, foxc1 gene, molecular cytogenetics, renovascular disease, ring chromosome 6
MeSH terms: Case Reports

Background:
Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome.
Case presentation:
In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH. The de-novo ring chromosome 6 involved a 1.8 Mb terminal deletion in the distal short arm and a 2.5 Mb duplication in the distal long arm of the same chromosome 6. This results in monosomy for the region 6pter to 6p25.3 and trisomy for the region 6q27 to 6qter. Analysis of genes in these chromosomal regions suggests that haploinsufficiency for FOXC1 and GMDS genes accounts for the cardiac and neurodevelopmental phenotypes in the proband. The ring chromosome 6 reported here is atypical as it involves a unique duplication of the distal long arm. Furthermore, the presence of renovascular disease is also a unique feature identified in this patient.
Conclusion:
To the best of our knowledge, a comparable ring chromosome 6 involving both a distal deletion and duplication on different arms has not been previously reported. The renovascular disease identified in this patient may be a direct consequence of the described chromosome rearrangement or a late clinical presentation in r(6) cases. This clinical finding may further support the implicated role of FOXC1 gene in renal pathology.
Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I
Authors: Motoi Yamashita, Shiori Eguchi, Dan Tomomasa, Takahiro Kamiya, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Hanako Funakoshi, Yuki Mizuno, Kentaro Okamoto, Tuan Minh Nguyen, Hidetoshi Takada, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane
Journal: Front Immunol (2022)
Keywords: graft-versus-host disease, hematopoietic cell transplantation, inborn errors of immunity, leukocyte adhesion deficiency, posttransplant cyclophosphamide
MeSH terms: Graft vs Host Disease / etiology, Graft vs Host Disease / prevention & control, Hematopoietic Stem Cell Transplantation / adverse effects, Case Reports, Research Support, Non-U.S. Gov't, Cyclophosphamide / therapeutic use, Female, HLA Antigens / genetics, Humans, Cyclophosphamide, HLA Antigens, Leukocyte adhesion deficiency type 1

Leukocyte adhesion deficiency type I (LAD-I) is a rare autosomal recessive inborn error of immunity (IEI) caused by the defects in CD18, encoded by the ITGB2 gene. LAD-I is characterized by defective leukocyte adhesion to the vascular endothelium and impaired migration of leukocytes. Allogeneic hematopoietic cell transplant (HCT) is the only curative treatment for LAD-I. In an absence of ideal donor for HCT, human leukocyte antigen (HLA)-haploidentical HCT is performed. Posttransplant cyclophosphamide (PT-CY) is a relatively new graft-versus-host disease (GVHD) prophylactic measure and has been increasingly used in HLA-haploidentical HCT for malignant and nonmalignant diseases. However, experience in using PT-CY for rare IEIs, such as LAD-I, is very limited. We report a case of LAD-I successfully treated with HLA-haploidentical HCT with PT-CY. Complete chimerism was achieved, and the patient was cured. Her transplant course was complicated by mild GVHD, cytomegalovirus reactivation and veno-occlusive disease/sinusoidal obstruction syndrome, which were successfully treated. HLA-haploidentical HCT with PT-CY is a safe and effective option for patients with LAD-I when HLA-matched donors are unavailable.
A Case of Midgut Volvulus Associated with a Jejunal Diverticulum
Authors: Joseph Gutowski, Rachel NeMoyer, Glenn S Parker
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Midgut volvulus in adults is a rare entity that may present with intermittent colicky abdominal pain mixed with completely asymptomatic episodes. This small bowel twist may result in complications of obstruction, ischemia, hemorrhage, or perforation. With a midgut volvulus, complications may be life-threatening, and emergent surgical intervention is the mainstay of treatment. This current case involves an 80-year-old woman with intermittent abdominal pain with increasing severity and decreasing interval of time to presentation. A CAT scan revealed mesenteric swirling with possible internal hernia. A diagnostic laparoscopy followed by laparotomy revealed a midgut volvulus, extensive adhesions involving the root of the mesentery, and a large jejunal diverticulum. The adhesions were lysed enabling untwisting of the bowel, allowing placement of the small bowel in the correct anatomic position and resection of the jejunal diverticulum. This is a rare case of midgut volvulus with intermittent abdominal pain, associated with jejunal diverticulum managed successfully. A midgut volvulus should be considered in the differential diagnosis of a patient who present with a small bowel obstruction secondary to an internal hernia, especially when a swirl sign is present on the CAT scan.
An Unusual Case of Suspected Metastatic Gastrointestinal Stromal Tumor Complicated by Streptococcus Intermedius Pyogenic Liver Disease
Authors: Scarlet F Louis-Jean, Giorgi Sabakhtarishvili, Amanda Damota, Maia Tavadze
Journal: Cureus (2023)
Keywords: gastrointestinal stromal tumor, hepatic abscess, metastasis, pyogenic liver disease, streptococcus intermedius
MeSH terms: Case Reports

A gastrointestinal stromal tumor (GIST) is a mesenchymal neoplasm of the gastrointestinal tract often known to express c-KIT or platelet-derived growth factor receptor alpha (PDGFRα). Among all GI tract cancers, they account for less than 1% of cases. Most patients become symptomatic in the later stages of the tumor's course, often presenting with insidious anemia due to gastrointestinal bleeding and metastasis. The recommended management of solitary GIST is surgery, while larger or metastatic tumors that express c-KIT are managed with imatinib as either neoadjuvant or adjuvant therapy. Due to the progression of these tumors, they are at times associated with systemic anaerobic infection, which is an indication of malignancy workup. In this case report, we discuss a 35-year-old woman who was discovered to have GIST with possible hepatic metastasis complicated by pyogenic liver disease due to Streptococcus intermedius and the diagnostic challenge of differentiating between infection and tumor.
A Novel Antibiotic Spacer for Significant Proximal Femoral Loss - Surgical Technique
Authors: David Shields, Roderick Kong, Sanjay Gupta, Ashish Mahendra
Journal: Open Orthop J (2017)
Keywords: antibiotics, bone loss, femur, hip, infection, revision

Background:
Infections of proximal femora with prosthetic implants in situ have long been a major concern in orthopedic surgery. The gold standard in the management of infected proximal femurs in the presence of prosthetic implants has traditionally been a two-stage revision. However, this is challenging in the setting of extensive bone loss.
Methods:
A 3 case series of such infections leading to extensive loss of the proximal femur is presented. We specifically describe our technique of debriding the infected segments as well as utilization of a trochanteric slide osteotomy to resect the femur.We also demonstrate preparation of the "pseudoacetabulum" and femoral component with an antibiotic spacer.
Conclusion:
The high cost of such a procedure is offset by reduction in time spent in hospital. The spacer also helps to allow mobilization by partial weight bearing on a stable femoral component and provide pain control which improves quality of life as compared to prolonged intravenous antimicrobial therapy.
Onychomadesis developed only on the nails having cutaneous lesions of severe hand-foot-mouth disease
Authors: Emi Shikuma, Yuichiro Endo, Akihiro Fujisawa, Miki Tanioka, Yoshiki Miyachi
Journal: Case Rep Dermatol Med (2011)
MeSH terms: Case Reports

This paper reported a case of onychomadesis which appeared on the nails after heal of cutaneous lesions of hand-foot-mouth disease (HFMD). There were a few reports describing onychomadesis after HFMD; however, the mechanism is still unclear. The present case was prospectively observed, and onychomadesis was found to develop only on the nails having cutaneous lesions of HFMD. We considered that nail dysfunction due to direct inflammation spreading from skin eruptions around nail is one of the causes of onychomadesis linked to HFMD.
Leukemia With TCF3-ZNF384 Rearrangement as a Distinct Subtype of Disease With Distinct Treatments: Perspectives From A Case Report and Literature Review
Authors: Na Lin, Xiaojing Yan, Dali Cai, Lei Wang
Journal: Front Oncol (2021)
Keywords: tcf3-znf384 fusion, znf384 rearrangement, acute lymphoblastic leukemia (all), mixed phenotype acute leukemia (mpal), treatment
MeSH terms: Case Reports

Background:

ZNF384 rearrangements are found in 5-10% of B-cell acute lymphoblastic leukemia (B-ALL) and 48% of B cell/myeloid mixed phenotype acute leukemia (B/M MPAL). ZNF384-rearranged B-ALL is prone to lineage conversion after chemotherapy. TCF3 is the second most common rearrangement partner of ZNF384 in B-ALL (27.5%) and the most common partner in B/M MPAL (53.3%). TCF3-ZNF384 fusion is related to a poor steroid response and a high frequency of relapse. It is mostly reported in children and adolescents but rarely seen in adults.
Patients and methods:
Here, we report a rare case of adult common B-ALL with TCF3-ZNF384 fusion in which the patient relapsed after one cycle of consolidation chemotherapy. Relapsed leukemia cells from the bone marrow were cultured for 72 hours ex vivo, and a panel of 156 kinds of cytotoxic drugs, targeted therapy drugs, combination chemotherapy drugs, etc., was used for sensitivity screening. The literature on TCF3-ZNF384 fusion was reviewed, and reported cases with TCF3-ZNF384 fusion were summarized. Clinical characteristics were compared between B-ALL and MPAL with TCF3-ZNF384 fusion.
Results:
The relapsed lymphoblasts showed moderate sensitivity to both acute myelocytic leukemia (AML) - and acute lymphoblastic leukemia (ALL)-directed combination chemotherapy schemes, as well as to multiple targeted therapeutic drugs. The hyper-CVAD (B) scheme showed synergistic effects with multiple targeted compounds and had the highest sensitivity. The patient chose the hyper-CVAD (B) scheme combined with sorafenib and achieved complete remission (CR), then consolidated with myeloid-directed homoharringtonine+cytarabine+daunorubicin (HAD) scheme and gained molecular CR. By reviewing the literature, we found that both the genomic landscapes and gene expression profiles of ZNF384-rearranged B-ALL and MPAL are similar and that both diseases have lineage plasticity. The gene expression profile in TCF3-ZNF384-positive patients shows enrichment of hematopoietic stem cell features. No significant differences in clinical characteristics were found between TCF3-ZNF384-positive ALL and MPAL.
Conclusion:

TCF3-ZNF384-positive leukemia may be a distinct subtype of leukemia regardless of immunophenotype. Considering the frequent lineage switches and sensitivity to both ALL- and AML-directed schemes, a uniform strategy directed at both lymphoid and myeloid lineages or at hematopoietic stem cells may be better for TCF3-ZNF384-positive leukemia. Small molecule targeted therapies may be promising treatment options and deserve further investigation.