OpenMed/multicare-articles huggingface dataset:
Dorsal and Ventral Dimelia in the Same Hand in A Patient with Severe Ulnar Ray Deficiency: A Case Report
Authors: Mohammad Mohammad, F S Al-Kahtani
Journal: World J Plast Surg (2019)
Keywords: congenital, dorsal dimelia, hand, palmar nail, ventral dimelia
MeSH terms: Case Reports

Dorsal dimelia (the appearance of dorsal hand structures on the palmar aspect of the hand) and ventral dimelia (the appearance of ventral hand structures on the dorsal aspect of the hand) are rare congenital anomalies of the hand. None of the previously reported cases had combined dorsal and ventral dimelia in the same patient. Here, we report a case of severe ulnar ray deficiency. The hand had two digits: the radial digit had a palmar nail (dorsal dimelia) and the ulnar digit had absence of the normal dorsal nail along with the appearance of an ectopic pulp on the dorsal aspect of the digit (ventral dimelia). Ulnar ray deficiency is an error of sonic hedgehog (SHH) responsible for antero-posterior patterning of the limb in-utero. Ventral and dorsal dimelia are errors of dorso-ventral patterning of the hand. The complex interactions of SHH with the dorso-ventral axis of development may explain the concurrent dimelia in our patient.
Assessment of Anastomotic Perfusion in Left-Sided Robotic Assisted Colorectal Resection by Indocyanine Green Fluorescence Angiography
Authors: Emanuel Shapera, Roger W Hsiung
Journal: Minim Invasive Surg (2019)

Background:
Indocyanine green fluorescent angiography (IcGA) has been used with success in guiding intraoperative management to prevent colorectal anastomotic complications. Prior studies in open and laparoscopic colorectal surgery, such as PILLAR II, have demonstrated a low anastomotic leak rate (1.4%). As the minimally invasive approach progresses from laparoscopic to robotic approach, the effect and safety of IcGA in assessing anastomotic perfusion in the latter deserve further investigation.
Methods:
The objective of the study was to determine the safety of IcGA in guiding intraoperative management of robotic assisted colorectal resection via perfusion assessment. The design was single-surgeon, retrospective case-control study. 74 patients underwent left-sided robotic assisted colorectal resection and anastomosis with IcGA guidance. 30 historical controls underwent left-sided robotic assisted colorectal resection and anastomosis without IcGA. Clinical, demographic, operative, and outcome variables were tabulated.
Results:
In the control group, 1 patient suffered a postoperative anastomotic stricture requiring no surgery, and 1 patient suffered an anastomotic dehiscence requiring return to the operating room. There were no anastomotic complications in the IcGA group, including 4 patients who underwent a change in the chosen level of anastomosis based on intraoperative IcGA.
Conclusion:
IcGA is safe to use as demonstrated by the very low rate of complications in this case series. It is also safe to rely on to guide re-resection and recreation of an anastomosis intraoperatively by demonstration of blood flow. This may help offset the loss of tactile feedback and assessment of tension in the robotic platform.
Case report: Apatinib combined with neoadjuvant therapy for primary squamous cell carcinoma of the breast: a case report
Authors: Fangfang Gao, Jingtai Li, Haoran Liao, Pingming Fan, Minjian Wang, Yu Liu, Linwei Ding, Guankui Du
Journal: Front Pharmacol (2023)
Keywords: vegfr, apatinib, neoadjuvant, primary squamous cell carcinoma of the breast, targeted therapy
MeSH terms: Case Reports

Primary squamous cell carcinoma of the breast is a rare subtype of carcinoma of chemosis for which there is no effective chemotherapy regimen. Breast squamous cell carcinoma is usually "triple negative", with poor chemotherapy effects and poor prognosis. Here, we report a successful case of primary breast squamous cell carcinoma treated with apatinib. The patient was treated with 2 cycles of apatinib. The efficacy was evaluated as partial remission, and a sublesion of approximately 4 cm fell off.
A rare co-segregation-mutation in the insulin receptor substrate 1 gene in one Chinese family with ankylosing spondylitis
Authors: Ju Rong, Qiuxia Li, Pingping Zhang, Xinyu Wu, Jinxian Huang, Chao Li, Zetao Liao, Yingying Xie, Qing Lv, Qiujing Wei, Tianwang Li, Jianlin Huang, Shuangyan Cao, Yan Shen, Jieruo Gu
Journal: PLoS One (2015)
MeSH terms: Insulin Receptor Substrate Proteins / genetics, Spondylitis, Ankylosing / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Alleles, China, Female, Genotyping Techniques, Humans, Male, Mutation / genetics, Polymorphism, Single Nucleotide, Sequence Alignment, IRS1 protein, human, Insulin Receptor Substrate Proteins

Ankylosing spondylitis (AS; MIM 106300) is a common rheumatic disease with strong genetic components affecting approximately 0.3% of the population. The exact genetic mechanism of AS remains elusive. Our previous study showed that AS could be transmitted in an autosomal dominant inheritance mode and a 6-cM candidate region located on the chromosome 2q36.1-36.3 was mapped in a Chinese family. Mutation screening was conducted within the candidate region in the family and other AS by sequencing, and the novel mutation will be further validated in other AS families, sporadic cases and healthy controls by mass spectrometry. We identified a rare non-synonymous mutation (Arg580Gly) in insulin receptor substrate 1 (IRS1) co-segregated with disease phenotype in patients of the family, which was not found in other AS families, sporadic patients and healthy controls. In the study, we found a rare non-synonymous mutation in IRS1 co-segregation in one Chinese family with AS, which indicated a new candidate disease causative gene for AS.
Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation
Authors: Anita Kloss-Brandstätter, Gertraud Erhart, Claudia Lamina, Bernhard Meister, Margot Haun, Stefan Coassin, Markus Seifert, Andreas Klein-Franke, Bernhard Paulweber, Lyudmyla Kedenko, Barbara Kollerits, Dorine W Swinkels, Sita H Vermeulen, Tessel E Galesloot, Florian Kronenberg, Günter Weiss
Journal: PLoS One (2012)
MeSH terms: Anemia, Iron-Deficiency / blood, Anemia, Iron-Deficiency / genetics, Cation Transport Proteins / genetics, Haplotypes, Iron / blood, Membrane Proteins / genetics, Serine Endopeptidases / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Child, Child, Preschool, Dietary Supplements, Female, Ferritins / blood, Genetic Association Studies, Humans, Infant, Male, Mutation, Pedigree, Polymorphism, Single Nucleotide, Serbia, Cation Transport Proteins, Membrane Proteins, solute carrier family 11- (proton-coupled divalent metal ion transporters), member 2, Ferritins, Iron, Serine Endopeptidases, TMPRSS6 protein, human

Background:
Iron-refractory iron deficiency anaemia (IRIDA) is a rare disorder which was linked to mutations in two genes (SLC11A2 and TMPRSS6). Common polymorphisms within these genes were associated with serum iron levels. We identified a family of Serbian origin with asymptomatic non-consanguineous parents with three of four children presenting with IRIDA not responding to oral but to intravenous iron supplementation. After excluding all known causes responsible for iron deficiency anaemia we searched for mutations in SLC11A2 and TMPRSS6 that could explain the severe anaemia in these children.
Methodology/results:
We sequenced the exons and exon-intron boundaries of SLC11A2 and TMPRSS6 in all six family members. Thereby, we found seven known and fairly common SNPs, but no new mutation. We then genotyped these seven SNPs in the population-based SAPHIR study (n = 1,726) and performed genetic association analysis on iron and ferritin levels. Only two SNPs, which were top-hits from recent GWAS on iron and ferritin, exhibited an effect on iron and ferritin levels in SAPHIR. Six SAPHIR participants carrying the same TMPRSS6 genotypes and haplotype-pairs as one anaemic son showed lower ferritin and iron levels than the average. One individual exhibiting the joint SLC11A2/TMPRSS6 profile of the anaemic son had iron and ferritin levels lying below the 5(th) percentile of the population's iron and ferritin level distribution. We then checked the genotype constellations in the Nijmegen Biomedical Study (n = 1,832), but the profile of the anaemic son did not occur in this population.
Conclusions:
We cannot exclude a gene-gene interaction between SLC11A2 and TMPRSS6, but we can also not confirm it. As in this case candidate gene sequencing did not reveal causative rare mutations, the samples will be subjected to whole exome sequencing.
Secondary vesical calculus resulting from migration of an intrauterine contraceptive device
Authors: Suvarna Vagholkar, Ketan Vagholkar
Journal: Case Rep Obstet Gynecol (2012)

Intrauterine contraceptive device (IUCD) is the commonest form of contraception used in view of less systemic side effects. However, there are a multitude of local complications caused by it. Of all the local complications described, migration of the device into adjacent organs is the most morbid of all complications. A patient presenting with history of loss or disappearance of the intrauterine contraceptive device accompanied by urinary symptoms should raise the doubt of a migrated device with the formation of a secondary calculus. This prompts further radiological investigations and merits surgical intervention either endourologically or by open surgery depending upon the merits of the case. A case report elucidating this fact is presented.
Caecal herniation through the foramen of Winslow
Authors: Gary Tse, Tamas Sollei, Syed Mohammed Ali, Neil Kukreja
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Internal hernia is the protrusion of an abdominal viscus through the peritoneum or mesentery into a compartment within the abdominal cavity. We present a case of internal herniation through the foramen of Winslow that was identified by CT imaging. It was treated with reduction at laparotomy and subsequent right hemicolectomy.
Bilateral Granulomatous Iridocyclitis Associated with Early-Onset Juvenile Psoriatic Arthritis
Authors: Christian Nieves-Ríos, Guillermo A Requejo Figueroa, Sofía C Ayala Rodríguez, Alejandra Santiago-Díaz, Eduardo J Rodriguez-Garcia, Alejandro L Perez, Erick Rivera-Grana, Adriana C Figueroa-Díaz, Rafael Martín-García, Armando L Oliver
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

Purpose:
The purpose of this study is to report on a case of bilateral granulomatous iridocyclitis in a patient with early-onset juvenile psoriatic arthritis (JPsA).
Methods:
The method used is an observational case report. Observations. A 3-year-old Hispanic girl was sent to our uveitis service for further evaluation of her granulomatous uveitis. The initial ophthalmologic examination revealed bilateral band keratopathy, large mutton-fat keratic precipitates, multiple posterior synechiae, and 4+ anterior chamber cells. The physical exam was notable for left knee edema and right axillary rash. Laboratory testing was remarkable for an erythrocyte sedimentation rate of 80 mm/h, positive antinuclear antibodies (1 : 1, 280), and negative human leukocyte antigen B27. A cutaneous biopsy was obtained, which confirmed the diagnosis of a psoriatic rash. Treatment with oral prednisolone and topical prednisolone acetate with atropine sulfate resulted in the complete resolution of the uveitis. Conclusion and Importance. Bilateral granulomatous iridocyclitis may be a rare presentation of ocular involvement in patients with early-onset JPsA.
Thrombotic thrombocytopenic purpura associated with mixed connective tissue disease: a case report
Authors: João Tadeu Damian Souto Filho, Philipe Vianna de Barros, Aline Maria Yamaguti Rios Paes da Silva, Fernanda Alves Barbosa, Gustavo Fernandes Ribas
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Thrombotic thrombocytopenic purpura (TTP) is a multisystemic disorder characterized by microangiopathic hemolytic anemia and thrombocytopenia, which may be accompanied by fever, renal, or neurologic abnormalities. Cases are divided into acute idiopathic TTP and secondary TTP. Autoimmune diseases, especially systemic lupus erythematosus, in association with TTP have been described so far in many patients. In contrast, TTP occurring in a patient with mixed connected tissue disease (MCTD) is extremely rare and has only been described in nine patients. We describe the case of a 42-year-old female with MCTD who developed thrombocytopenia, microangiopathic hemolytic anemia, fever, and neurological symptoms. The patient had a good clinical evolution with infusion of high volume of fresh frozen plasma, steroid therapy, and support in an intensive care unit. Although the occurrence of TTP is rare in MCTD patients, it is important to recognize TTP as a cause of thrombocytopenia and hemolytic anemia in any patient with autoimmune diseases. Prompt institution of treatment remains the cornerstone of treatment of TTP even if plasma exchange is not available like what frequently happens in developing countries.
Upper eyelid angiolipoma associated friction in the glide zone
Authors: Selman Karaci, Ayten Livaoğlu, Rüştü Köse, Barış Kömür
Journal: GMS Ophthalmol Cases (2017)
MeSH terms: Case Reports

A 74-year-old man was examined for a mass in the left upper eyelid. It was inconspicuous in inspection. There was no visual restriction, however a feeling of friction on the superior orbit during lid movement. Through eyelid crease lid incision, a solitary lesion appeared in the preaponeurotic space that orginated from the upper tarsal plate. Excisional biopsy revealed adipose proliferation with patch form vessels. This case represents the second reported angiolipoma of the eyelid in English literature.
Case report: Pulmonary syphilis mimicking pulmonary hematogenous metastases on chest CT and integrated PET/CT
Authors: Hyung Jun Kim, Hyun Ju Seon, Hyo Hyun Shin, Yoo-Duk Choi
Journal: Indian J Radiol Imaging (2011)
Keywords: 18f fdg pet-ct, chest ct, pulmonary syphilis
MeSH terms: Case Reports

We report a case of syphilis with pulmonary involvement. Chest CT scan and (18)F-fluorodeoxyglucose (FDG) PET/CT showed multiple pulmonary nodules mimicking pulmonary hematogenous metastases. This was confirmed on follow-up images that showed therapeutic response to penicillin.
Post-traumatic Anterior Cerebral Artery Rupture after a Severe Traumatic Brain Injury
Authors: Quentin Mathais, Pierre Esnault, Christophe Joubert, Caroline Dragone, Eric Meaudre
Journal: Indian J Crit Care Med (2019)
Keywords: anterior cerebral artery, bcvi
MeSH terms: Case Reports

Blunt cerebrovascular injuries (BCVI) have been increasingly recognized in the past decade due to the initiation of different screening protocols. We present the case of an anterior cerebral artery rupture with free contrast extravasation following a severe traumatic brain injury. Epidemiology, modalities of screening and treatment of BCVI are discussed. This report reminds that the screening of BCVI may be essential after a severe traumatic brain injuries (TBI).
How to cite this article:
Mathais Q, Esnault P, Joubert C, Dragone C, Meaudre E. Post-traumatic Anterior Cerebral Artery Rupture after a Severe Traumatic Brain Injury. Indian Journal of Critical Care Medicine, January 2019;23(1):54-55.
Understanding fragile X syndrome from a mother's perspective: Challenges and resilience
Authors: Chantel Lynette Weber
Journal: Int J Qual Stud Health Well-being (2016)
Keywords: carriers, south africa, disability, impairment, parenting, well-being
MeSH terms: Attitude to Health, Fragile X Syndrome / psychology, Mothers / psychology, Resilience, Psychological, Case Reports, Adolescent, Adult, Female, Humans, Male, Qualitative Research, South Africa, Young Adult

The purpose of this study is to communicate findings from a case study on a South African mother with three children diagnosed with full mutation fragile X syndrome (FXS). The participant is an unaffected carrier of FXS. Research has shown that mothers of children with FXS often experience high levels of parenting stress and low levels of psychological well-being. However, observations made have piqued curiosity about their positivity and determination to carry on each day raising children diagnosed with FXS. The aim is to develop a better understanding of the manner in which a mother of children with FXS make sense of her situation, to gain further insight into the specific resilience processes she acquired. A qualitative case study approach was followed, gathering data through semi-structured interviews based on open-ended questions. The findings offer new insights into a South African mother's life raising children with FXS. Even though there is very limited support and little awareness of FXS in South Africa, she still found ways to seek help, and find solutions to every day challenges. The study conclusions discourage blind stereotyping of mothers of children with FXS as vulnerable only. Future research should concentrate on promoting awareness, education, advocacy, and support for individuals with FXS in South Africa.
Isolated Femoral LCL Avulsion Fracture in the Adult Knee: Two Patient Cases and Literature Review
Authors: Gilles Dietrich, Benoît Maeder, John Nyland, Yaël Maeder, Alain Akiki, Robin Martin
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Avulsion injuries of the LCL most commonly occur at the fibular insertion. Femoral LCL avulsion injuries have only been previously described in pediatric patients or as multiligament knee injury components among adults. This case series with comprehensive literature review describes for the first time 2 cases of isolated LCL femoral avulsion fractures in adults including conservative treatment outcomes. Both patients sustained a strong varus stress mechanism to their right knee, following sport injury or road traffic accident. For both patients, a complete radiographic evaluation including X-rays, MRI, and CT scan confirmed no other associated knee lesions. The femoral LCL avulsion fractures that were observed were minimally displaced and noncomminuted. Furthermore, imagery suggested preserved integrity at the superior lateral genicular artery, adjacent articular capsule, and IT band. Based on clinical and imaging evaluations, the decision was made to follow conservative treatment. By 10 weeks postinjury, both patients were asymptomatic with early radiological fracture healing evidence. Comparative varus stress radiographs at 20° knee flexion revealed no side-to-side differences and clinical exam showed no posterolateral rotatory instability. The second patient case presented with mild femoral LCL attachment calcification on follow-up CT-scan. Following a detailed analysis of anatomic injury characteristics, we suggest that patients with isolated femoral LCL avulsion fractures have low secondary displacement risk provided SLGA, articular capsule, and IT band integrity are present. In contrast to high-grade ligamentous and distal avulsion LCL injuries, we recommend conservative treatment for patients who sustain these lesions.
Risk of narcolepsy associated with inactivated adjuvanted (AS03) A/H1N1 (2009) pandemic influenza vaccine in Quebec
Authors: Jacques Montplaisir, Dominique Petit, Marie-Josée Quinn, Manale Ouakki, Geneviève Deceuninck, Alex Desautels, Emmanuel Mignot, Philippe De Wals
Journal: PLoS One (2014)
MeSH terms: Adjuvants, Immunologic / adverse effects, Influenza Vaccines / adverse effects, Influenza, Human / prevention & control, Narcolepsy / epidemiology, Polysorbates / adverse effects, Squalene / adverse effects, alpha-Tocopherol / adverse effects, Research Support, Non-U.S. Gov't, Adolescent, Adult, Case-Control Studies, Child, Drug Combinations, Female, Humans, Influenza A Virus, H1N1 Subtype / immunology, Influenza Vaccines / therapeutic use, Influenza, Human / immunology, Male, Middle Aged, Polysorbates / therapeutic use, Quebec / epidemiology, Retrospective Studies, Squalene / therapeutic use, Vaccination, Young Adult, alpha-Tocopherol / therapeutic use, Adjuvants, Immunologic, Drug Combinations, Influenza Vaccines, Polysorbates, Squalene, AS03 adjuvant, alpha-Tocopherol

Context:
An association between an adjuvanted (AS03) A/H1N1 pandemic vaccine and narcolepsy has been reported in Europe.
Objective:
To assess narcolepsy risk following administration of a similar vaccine in Quebec.
Design:
Retrospective population-based study.
Setting:
Neurologists and lung specialists in the province were invited to report narcolepsy cases to a single reference centre.
Population:
Patients were interviewed by two sleep experts and standard diagnostic tests were performed. Immunization status was verified in the provincial pandemic influenza vaccination registry.
Main outcome measures:
Confirmed narcolepsy with or without cataplexy with onset of excessive daytime sleepiness between January 1st, 2009, and December 31st, 2010. Relative risks (RRs) were calculated using a Poisson model in a cohort analysis, by a self-controlled case series (SCCS) and a case-control method.
Results:
A total of 24 cases were included and overall incidence rate was 1.5 per million person-years. A cluster of 7 cases was observed among vaccinated persons in the winter 2009-2010. In the primary cohort analysis, 16-week post-vaccination RR was 4.32 (95% CI: 1.50-11.12). RR was 2.07 (0.70-6.17) in the SCCS, and 1.48 (0.37-7.03) using the case-control method. Estimates were lower when observation was restricted to the period of pandemic influenza circulation, and tended to be higher in persons <20 years old and for cataplexy cases.
Conclusions:
Results are compatible with an excess risk of approximately one case per million vaccine doses, mainly in persons less than 20 years of age. However, a confounding effect of the influenza infection cannot be ruled out.
Xanthogranulomatous endometritis: a challenging imitator of endometrial carcinoma
Authors: A Işin Doğan-Ekici, Alp Usubütün, Türkan Küçükali, Ali Ayhan
Journal: Infect Dis Obstet Gynecol (2007)
MeSH terms: Endometritis / pathology, Granuloma / pathology, Uterine Neoplasms / pathology, Case Reports, Aged, Diagnosis, Differential, Endometritis / diagnosis, Female, Granuloma / diagnosis, Humans, Postmenopause, Uterine Hemorrhage / etiology, Uterine Neoplasms / diagnosis, Weight Loss

Xanthogranulomatous inflammation is a distinguished histopathological entity affecting several organs, predominantly the kidney and gallbladder. So far, only a small number of cases of xanthogranulomatous inflammation occurring in female genital tract have been described, most frequently affecting the endometrium and histologically characterized by replacement of endometrium by xanthogranulomatous inflammation composed of abundant foamy histiocytes, siderophages, giant cells, fibrosis, calcification and accompanying polymorphonuclear leucocytes, plasma cells and lymphocytes of polyclonal origin. We present a case of a 69-year-old female complained of post menopausal bleeding and weight loss. Clinical preliminary diagnoses were endometrial carcinoma or hyperplasia and ultrasound was supposed to be endometrial malignancy, hyperplasia or pyometra by radiologist. Histopathological examination of uterus revealed xanthogranulomatous endometritis. Since xanthogranulomatous endometritis may mimic endometrial malignancy clinically and pathologically as a result of the replacement of the endometrium and occasionally invasion of the myometrium by friable yellowish tissue composed of histiocytes, knowledge of this unusual inflammatory disease is needed for both clinicians and pathologists.