OpenMed/multicare-articles huggingface dataset:
A Cyanotic Newborn with a Pink Right Upper Extremity
Authors: Matthias Beichl, Andreas Hanslik, Daniel Zimpfer, Judith Rittenschober-Boehm, Katrin Nagl, Ina Michel-Behnke
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Aberrant origin of the subclavian artery (SCA) is a well-known vascular anomaly as part of congenital heart diseases with the left subclavian artery (LSCA) being more frequently affected than the right subclavian artery (RSCA). Complete isolation of the SCA is an even more infrequent aortic arch anomaly, occurring in less than 1% for the LSCA and even less for the RSCA. Isolation of the RSCA in patients with d-transposition of the great arteries (D-TGA) is even scanter with only a hand full of cases being reported in the literature. However, isolation of the RSCA has important implications on hemodynamics and surgical strategies. In this case report, we present a newborn patient with D-TGA which presented with distinct differential cyanosis. While the right upper extremity appeared pink with an oxygen saturation of 100%, the rest of the body was cyanotic. At first, this appearance was interpreted as the Harlequin phenomenon during primary care. However, detailed echocardiography revealed an aberrant origin of the RSCA from the right pulmonary artery, which led to the differential cyanosis. The patient underwent arterial switch operation on day of life two including dissection and reimplantation of the RSCA. The special hemodynamic situation of this is discussed in terms of pathophysiology and as well as its impact on perioperative and surgical management.
Perceptual Accent Rating and Attribution in Psychogenic FAS: Some Further Evidence Challenging Whitaker's Operational Definition
Authors: Stefanie Keulen, Jo Verhoeven, Roelien Bastiaanse, Peter Mariën, Roel Jonkers, Nicolas Mavroudakis, Philippe Paquier
Journal: Front Hum Neurosci (2016)
Keywords: agrammatism, bi- and multilingualism, foreign accent syndrome, perceptual experiment, psychogenic, speech disorder
MeSH terms: Case Reports

A 40-year-old, non-aphasic, right-handed, and polyglot (L1: French, L2: Dutch, and L3: English) woman with a 12-year history of addiction to opiates and psychoactive substances, and clear psychiatric problems, presented with a foreign accent of sudden onset in L1. Speech evolved toward a mostly fluent output, despite a stutter-like behavior and a marked grammatical output disorder. The psychogenic etiology of the accent foreignness was construed based on the patient's complex medical history and psychodiagnostic, neuropsychological, and neurolinguistic assessments. The presence of a foreign accent was affirmed by a perceptual accent rating and attribution experiment. It is argued that this patient provides additional evidence demonstrating the outdatedness of Whitaker's (1982) definition of foreign accent syndrome, as only one of the four operational criteria was unequivocally applicable to our patient: her accent foreignness was not only recognized by her relatives and the medical staff but also by a group of native French-speaking laymen. However, our patient defied the three remaining criteria, as central nervous system damage could not conclusively be demonstrated, psychodiagnostic assessment raised the hypothesis of a conversion disorder, and the patient was a polyglot whose newly gained accent was associated with a range of foreign languages, which exceeded the ones she spoke.
Diabetic myonecrosis: A case series of two dialysis-dependent patients
Authors: Haresh Selvaskandan, Krishanantham Ambalawaner, Rachel Westacott
Journal: Clin Nephrol Case Stud (2019)
Keywords: diabetic muscle infarction, diabetic myonecrosis, dialysis, end-stage renal failure, leg pain
MeSH terms: Case Reports

Diabetic myonecrosis (DMN) is a rare microangiopathic disorder that can present as an acutely painful and swollen limb in patients with established diabetes mellitus. The condition can be diagnosed noninvasively with magnetic resonance imaging and resolves with analgesia, bed rest, and glycemic control. Due to a relative lack of awareness regarding the condition, avoidable interventions such as muscle biopsies and even surgery are sometimes pursued, which have been associated with prolonged recovery times. The majority of patients with DMN have diabetic nephropathy, yet this condition is not widely recognized in the nephrology community, resulting in delayed diagnosis and patients undergoing unnecessary and potentially harmful investigations. There is therefore a need for increased awareness of the condition among renal physicians. Here, we report the cases of two patients on hemodialysis who were ultimately diagnosed with DMN, along with a review of the literature.
Trends in contraceptive method mix among adolescents and youth aged 15-24 in low- and middle-income countries
Authors: Jane T Bertrand, John A Ross, Sydney R Sauter
Journal: Front Glob Womens Health (2023)
Keywords: adolescents, family planning, method choice, method mix, method skew, youth

Background:
Method mix - the percent distribution of contraceptive use by method among contraceptive users - reflects both client choice of method and method availability. In a country where clients have access to a wide range of methods at an affordable price, method mix is a strong proxy for method choice. In contrast, where access is limited by numerous factors - method availability, cost, or provider attitudes - method mix may not capture method choice well. Given that method mix can be measured reliably from population-based surveys, it is useful in exploring method choice. While the method mix for all women of reproductive age (15-49 years) has been described previously, the method mix for adolescents and young women aged 15-24 remains unexplored despite this population's high risk for unintended pregnancy.
Objectives:
This study investigates the contraceptive method mix for women aged 15-24 in low- and middle-income countries (LMICs) with national survey data and describes how the method mix differs by age group, geographic region, and marital status for women.
Methods:
Using data from the Demographic and Health (DHS) Surveys, the contraceptive method mix among women aged 15-24 across 64 LMICs is analyzed by age, marital status, and region, with measures of skew and average deviation. Three case studies are presented in which the trend over time in the method mix is examined.
Results:
There are large variations in method mixes across regions, which reflect their differences in various supply and demand constraints. However, there is consistently high usage of short-acting methods among both age groups, 15-19 and 20-24, compared to the full population of all women of reproductive age. Male condoms overwhelmingly predominate as the method used by women 15-24 in all regions.
Conclusion:
The marked differences found by marital status, region, and age show the need for programs to be tailored to local circumstances. Additionally, the large unmet need for contraception signals the ongoing urgency for strengthened programmatic efforts, and for a wider offering of methods to enlarge the choices available to young women. Unmarried women in particular deserve attention, as well as young married women who wish to postpone a pregnancy.
Ring chromosome 13 and ambiguous genitalia
Authors: Elif Ozsu, Gül Yeşiltepe Mutlu, Belkıs Ipekçi
Journal: J Clin Res Pediatr Endocrinol (2014)
MeSH terms: Abnormalities, Multiple / genetics, Disorders of Sex Development / genetics, Case Reports, Chromosomes, Human, Pair 13 / genetics, Humans, Infant, Male, Ring Chromosomes, Chromosome 13 ring

Ambiguous genitalia, known to be associated with sex chromosome disorders, may also be seen with autosomal chromosome anomalies. Herein, we report a case with ambiguous genitalia and ring chromosome 13. Ring chromosome 13 is a rare genetic anomaly in which the loss of genetic material determines the clinical spectrum.
The physician and hereditary angioedema friend or foe: 62-year diagnostic delay and iatrogenic procedures
Authors: Anna Valerieva, Marco Cicardi, James Baraniuk, Maria Staevska
Journal: Allergy Asthma Clin Immunol (2018)
Keywords: c1-inhibitor deficiency, c1-inhibitor esterase, diagnosis delay, hereditary angioedema, iatrogenic procedure, misdiagnosis, recurrent ascites, recurrent ileus
MeSH terms: Case Reports

Background:
Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease characterized by episodes of acute subcutaneous swelling, and/or recurrent severe abdominal pain. The disease is potentially fatal if the upper-airway is involved. Iatrogenic harm can occur if HAE is not considered in the differential diagnosis, the specialists are not aware of the natural history, diagnosis and treatment of HAE, or as a result of unnecessary surgical and other iatrogenic interventions.
Case presentation:
We present the case of a 72-year-old man who began suffering recurrent abdominal pain at the age of 8 years. The pain led to frequent emergency department visits, three emergency surgical interventions, and 5 endoscopies before C1-INH-HAE was diagnosed at the age of 70. Infrequent subcutaneous swellings were attributed to unknown allergic reactions that were not related to the primary diagnosis of abdominal pain. Family history was positive for recurrent abdominal pain and angioedema but was ignored until the propositus' grandson developed recurrent severe oro-facial edema attacks. The boy's mother searched the worldwide web and found educational materials on a patient association website. She suggested complement C4 and C1-INH testing that led to the appropriate diagnosis of C1-INH-HAE type 1 in her son and his grandfather.
Conclusion:
This report emphasizes the importance of accurately evaluating personal and family history in patients with a long history of recurrent, acute, severe but medically unexplained abdominal pain and cutaneous swellings. Here, the diagnosis of HAE was overlooked for 62 years and the focus on abdominal complaints led to numerous surgical interventions without consideration of the full differential diagnosis. Screening family members from all generations for unrecognized angioedema, abdominal pain, and measurement of C1-INH and C4 are essential for accurate and timely diagnosis of HAE.
Pneumatosis intestinalis as the initial presentation of systemic sclerosis: a case report and review of the literature
Authors: Farshid Ejtehadi, Nikolaos A Chatzizacharias, Hugh Kennedy
Journal: Case Rep Med (2012)

Introduction. Pneumatosis intestinalis (PI) is an uncommon pathology characterised by the presence of gas within the intestinal wall. It has been associated with various conditions, including connective tissue diseases. This is the first report of PI being the initial presentation of systemic sclerosis. Case Presentation. The patient, a 75-year-old female, presented with an 8-month history of worsening dysphagia and epigastric pain, as well as other nonspecific symptoms. Initial investigations with an oesophagogastroduodenoscopy diagnosed Candida oesophagitis and also identified an extrinsic compression of the gastric antrum. Subsequently a CT scan of the abdomen and pelvis showed moderately dilated small bowel loops and PI. Due to the patient's stability, non-critical clinical condition, conservative management was instituted. More detailed investigations confirmed the diagnosis of systemic sclerosis with positive anticentromeric and antinuclear antibodies. The patient improved on methotrexate and was discharged with appropriate outpatient follow-up. Discussion. PI is a rare but well-documented pathology associated with connective tissue diseases, such as systemic sclerosis. In most cases, conservative management is preferable to surgical intervention, depending on the patient's clinical presentation and progress. This is the first report of PI being the initial presentation of a patient with systemic sclerosis responsive to conservative management.
Lampreys and spinal cord regeneration: "a very special claim on the interest of zoologists," 1830s-present
Authors: Kathryn Maxson Jones, Jennifer R Morgan
Journal: Front Cell Dev Biol (2023)
Keywords: petromyzon marinus, aquatic biology, lampreys, model organisms, neuroscience, regenerative medicine, reticulospinal neurons

Employing history of science methods, including analyses of the scientific literature, archival documents, and interviews with scientists, this paper presents a history of lampreys in neurobiology from the 1830s to the present. We emphasize the lamprey's roles in helping to elucidate spinal cord regeneration mechanisms. Two attributes have long perpetuated studies of lampreys in neurobiology. First, they possess large neurons, including multiple classes of stereotypically located, 'identified' giant neurons in the brain, which project their large axons into the spinal cord. These giant neurons and their axonal fibers have facilitated electrophysiological recordings and imaging across biological scales, ranging from molecular to circuit-level analyses of nervous system structures and functions and including their roles in behavioral output. Second, lampreys have long been considered amongst the most basal extant vertebrates on the planet, so they have facilitated comparative studies pointing to conserved and derived characteristics of vertebrate nervous systems. These features attracted neurologists and zoologists to studies of lampreys between the 1830s and 1930s. But, the same two attributes also facilitated the rise of the lamprey in neural regeneration research after 1959, when biologists first wrote about the spontaneous, robust regeneration of some identified CNS axons in larvae after spinal cord injuries, coupled with recovery of normal swimming. Not only did large neurons promote fresh insights in the field, enabling studies incorporating multiple scales with existing and new technologies. But investigators also were able to attach a broad scope of relevance to their studies, interpreting them as suggesting conserved features of successful, and sometimes even unsuccessful, CNS regeneration. Lamprey research demonstrated that functional recovery takes place without the reformation of the original neuronal connections, for instance, by way of imperfect axonal regrowth and compensatory plasticity. Moreover, research performed in the lamprey model revealed that factors intrinsic to neurons are integral in promoting or hindering regeneration. As this work has helped illuminate why basal vertebrates accomplish CNS regeneration so well, whereas mammals do it so poorly, this history presents a case study in how biological and medical value have been, and could continue to be, gleaned from a non-traditional model organism for which molecular tools have been developed only relatively recently.
Reviewing the potentials of MMOGs as research environments: A case study from the strategy game Travian
Authors: Siegfried Müller, Raji Ghawi, Jürgen Pfeffer
Journal: PLoS One (2023)
MeSH terms: Video Games, Leadership, Longitudinal Studies, Motivation, Social Networking

Massively Multiplayer Online Games (MMOGs) provide many opportunities for scientists. Previous research ranges from personality trait prediction to alternative cancer treatments. However, there is an ongoing debate on whether these virtual worlds are able to represent real world scenarios. The mapping of online and offline findings is key to answering this question. Our work contributes to this discussion by providing an overview of the findings from network-based team and leadership research and by matching them with concrete results from our MMOG case study. One major finding is that team size matters. We show that high diversity in the type of teams is a major challenge, especially when combined with the immense amount of data in MMOGs. In our work, we discuss these issues and show that a well-grounded understanding of the data and the game environment makes it possible to overcome these limitations. Besides the team size, the aggregation periods play an important role. Regarding MMOGs as research environments, we show that it is important to pay close attention to the specific game-related contexts, the incentive structures, and the downside risks. Methodologically, we apply support and communication networks to show the influence of certain group-based measures (e.g., density, transitivity) as well as leadership-centered characteristics (e.g., k-core, group centrality, betweenness centralization) on team performance. Apart from our findings on centralization in communication networks, we are able to demonstrate that our results confirm the theoretical predictions which suggest that the behavioral patterns observed in MMOG teams are comparable to those observed in offline work teams.
Sarcoidosis with Arteriovenous Malformation in a 15-Year-Old Girl - The Rarest of the Rare
Authors: Iman Qaiser, Kanwal Nayani, Shakeel Ahmed, Rehan Ali, Mehnaz Atiq
Journal: Front Pediatr (2015)
Keywords: avms, complications of sarcoidosis, pulmonary arteriovenous malformations, pulmonary sarcoidosis, sarcoidosis
MeSH terms: Case Reports

Introduction:
Sarcoidosis is an uncommon multi-system disorder with many possible complications. Arteriovenous malformations (AVMs) are a rare vascular complication of sarcoidosis.
Case description:
A 15-year-old girl presented to the Pediatric Clinic at AKUH with pulmonary, hepatic, joint, and skin manifestations. Physical examination and investigations pointed toward sarcoidosis, including raised erythrocyte sedimentation rate, angiotensin converting enzyme (ACE), and alanine transaminase (ALT). An incidental finding of pulmonary arteriovenous malformation (PAVM) was noticed on echocardiography. She responded to oral corticosteroids, her ACE and ALT levels improved. There was lack of indication for pulmonary angio-embolization for her PAVM. On a 3-year follow-up, her condition improved and she is clinically well.
Discussion:
Pulmonary arteriovenous malformation is an extremely rare complication of sarcoidosis, especially among the pediatric population. Hence, this is the first reported case of its kind. The relation between sarcoidosis and PAVM is difficult to establish; however, there are some theories. This condition may be treated depending on the symptoms. Since our patient did not have any significant symptoms of PAVM, she was treated for the underlying disease, i.e., sarcoidosis.
Conclusion:
While dealing with patients having multi-system disorders like sarcoidosis, one must be very vigilant so as not to miss out on any complication. Regular follow-up visits should be scheduled to rule out new complications and to monitor the past ones.
Male Perineal Carcinoma: Experience in 4 Cases and Literature Review
Authors: Agustín Fraile Poblador, Manuel Hevia Palacios, Manuel Rodríguez Vegas, Alberto Artiles Medina, Enrique Sanz Mayayo, Silvia García Barreras, Guillermo Fernández Conejo, Rafael Rodríguez Patrón, Varona Crespo Constatino, Ana Saiz González, Javier Burgos Revilla
Journal: Case Rep Urol (2022)
MeSH terms: Case Reports

Perineal carcinoma of unknown origin is a rare and aggressive disease, so an early diagnosis and adequate treatment are essential to prevent its progression. We report the first series of cases of perineal carcinoma of unknown origin: (I) a 62-year-old male patient being followed up for a urethral stricture treated with periodic dilations with subsequent development of perineal abscesses and perineal carcinoma; (II) a 67-year-old male patient who consults for urinary discomfort associated with a perineal abscess. Recurrence of the abscess in the first month revealed the presence of an underlying perineal carcinoma; (III) a 78-year-old male patient that underwent urethroplasty with graft with subsequent regimen of periodical dilations. Recurrent formation of perianal abscesses revealed the presence of an underlying perineal carcinoma; and (IV) a 78-year-old male patient with history of in situ penile carcinoma treated by glans resurfacing. He consulted for penile pain, and imaging tests revealed a perineal abscess adjacent to the left corpus cavernosum. The core needle biopsy revealed a squamous cell carcinoma. Penile exploration and negative glans biopsy ruled out possible recurrence of penile carcinoma. The form of presentation of the disease has been very similar in all patients, demonstrating the presence of perineal abscess in all cases. Two patients had inguinal lymph node disease at diagnosis. All patients were treated by surgery, and three of them required adjuvant systemic treatment. Surgery combined with systemic treatment is probably the best option if the patient's conditions allow it.
Seborrheic Keratoses as the First Sign of Bladder Carcinoma: Case Report of Leser-Trélat Sign in a Rare Association with Urinary Tract Cancer
Authors: Aline Stollmeier, Bernardo Augusto Rosario, Bruna Loise Mayer, Gibran Avelino Frandoloso, Francisco Luiz Gomide Mafra Magalhães, Gustavo Lenci Marques
Journal: Case Rep Med (2016)

Introduction. Skin disorders can be the first manifestation of occult diseases. The recognition of typical paraneoplastic dermatoses may anticipate the cancer diagnosis and improve its prognosis. Although rarely observed, the sudden appearance and/or rapid increase in number and size of seborrheic keratoses can be associated with malignant neoplasms, known as the sign of Leser-Trélat. The aim of this report is to unveil a case of a patient whose recently erupted seborrheic keratoses led to investigation and consequent diagnosis of bladder cancer. Case Presentation. A 67-year-old man was admitted to the intensive care unit due to an exacerbation of chronic obstructive pulmonary disease (COPD). On physical examination, multiple seborrheic keratoses on the back of the hands, elbows, and trunk were observed; the patient had a 4-month history of these lesions yet was asymptomatic. The possibility of Leser-Trélat syndrome justified the investigation for neoplasia, and a bladder carcinoma was detected by CT-scan. The patient denied previous hematuria or any other related symptoms. Many of the lesions regressed during oncologic treatment. Conclusion. Despite the critics on the validity of the sign of Leser-Trélat, our patient fulfills the description of the disease, though urinary malignancy is a rare association. That corroborates the need of further investigation when there is a possibility of paraneoplastic manifestation.
Primary ovarian angiosarcoma in a 12- year -old girl: a case report of an exceptional localization in a context of limited resources country
Authors: Tchin Darré, Abdoul-Samadou Aboubakari, Bingo K N'Bortche, Akila Bassowa, Solange Adani-Ifé, Gado Napo-Koura
Journal: BMC Clin Pathol (2017)
Keywords: childhood, ovary, primary angiosarcoma, sub-saharan africa, togo
MeSH terms: Case Reports

Background:
Ovarian sarcomas represent less than 1% of all ovary cancers and usually are frequent in adults. Primary angiosarcomas are exceptional in the ovaries within children.
Case presentation:
We reported a case of primary ovarian angiosarcoma in a 12-year-old girl in a resource-constrained context. Immunohistochemistry study showed the positivity of CD34, CD31, factor VIII, while S100 was negative. The diagnosis of primary non-metastatic angiosarcoma was retained. She was unable to undergo the CWS-2002P chemotherapy since her parents could not afford it.
Conclusion:
This case report described a rare type of a primary ovarian angiosarcoma within a child, diagnosed in a low-income country in a laboratory with limited resources.