OpenMed/multicare-articles huggingface dataset:
A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections
Authors: Nese Akcan, Nedime Serakıncı, Burcu Turkgenc, Ruveyde Bundak, Nerin Bahceciler, Sehime G Temel
Journal: Front Endocrinol (Lausanne) (2017)
Keywords: tbx19 gene, adrenal insufficiency, adrenocorticotropic hormone, cortisol, respiratory infections
MeSH terms: Case Reports

Introduction:
Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD.
Case presentation:
A 7-year-old boy was hospitalized nine times for recurrent lower respiratory tract infections. The results of all tests for the possible causes of wheezing were within the normal limits. His ACTH and cortisol levels were persistently low. All other pituitary hormone levels, and adrenal ultrasound and pituitary magnetic resonance imaging results, were normal. Molecular analyses confirmed the diagnosis of CIAD by identifying compound heterozygosity for two mutations in the TBX19 gene. The first was a novel frameshift c.665delG variant in exon 4 of the TBX19 gene, leading to premature termination that was predicted to result in a non-functional truncated protein. The second was a nonsense C-to-T transition in exon 6 of the TBX19 gene, resulting in an arg286-to-ter mutation (dbSNP: rs74315376). Both parents were heterozygous for one of the mutations.
Conclusion:
Here, we presented a new mutation in the TBX19 gene in a patient with CIAD who presented with recurrent respiratory tract infections. This expands the mutation spectrum in this disorder. To conclude, adrenal insufficiency should be considered in patients with unexplained recurrent infections to prevent a delay in diagnosis.
Case report: Primary cardiac angiosarcoma with multiple metastases
Authors: Xuan Li, Lan Lan, Huijuan Hu
Journal: Front Cardiovasc Med (2022)
Keywords: mri, pet/ct, cardiac angiosarcoma, metastasis, treatment
MeSH terms: Case Reports

This reports outlines a rare case of primary right atrial angiosarcoma with multiple metastases. Multimodality imaging and histopathology confirmed the diagnosis of primary cardiac angiosarcoma and multiple metastases. We present the details of the presentation, multimodality imaging findings, and clinical management. The patient was followed up by cardiac MRI (CMRI) 2 months after therapy, the cardiac tumor and pulmonary metastases decreased markedly. Up to now, the patient has undergone four cycles of chemotherapy and immunotherapy.
The Use of Natural Health Products Especially Papaya Leaf Extract and Dandelion Root Extract in Previously Untreated Chronic Myelomonocytic Leukemia
Authors: Leena T Rahmat, Lloyd E Damon
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic disorder which shares clinical and morphological features of myelodysplastic syndrome and myeloproliferative neoplasms. Conventional therapeutic options include hydroxyurea, hypomethylating agents, and systemic chemotherapy, which are all palliative measures and are associated with potential side effects. Allogeneic hematopoietic cell transplantation is the only curative option. Natural health products such as papaya leaf extract and dandelion root extract have been shown to demonstrate anticancer activity in preclinical and clinical studies, respectively. We present a case study of a 76-year-old male with previously untreated CMML, whose hematological parameters remained stable and whose bone marrow blast counts vastly improved while taking papaya leaf extract and dandelion root extract.
Multiple complications in a sickle cell disease patient: a case report
Authors: J A Olaniyi
Journal: Clin Med Case Rep (2008)
MeSH terms: Case Reports

Summary This case report illustrates the multiple complications experienced by a sickle cell anaemia patient. Although he enjoyed fairly good health till age 16 years; he subsequently suffered grade four bilateral femoral head necrosis, cerebella infarct and cerebral atrophy from cumulative effect of repetitive vasoocclussion, recurrent overwhelming septicaemia, fixed flexion deformities and decubitous ulcer as a sequelae of earlier complications. He eventually became bed ridden. Financial constraint seriously compounded these problems. The determinants, of which type of the wide-ranging complications of SCD a particular patient will eventually develop, remain elusive.
Loss of renal allografts secondary to Candida vascular complications in two recipients from the same donor
Authors: Govardhana Rao Yannam, Lucile Wrenshall, R Brian Stevens
Journal: Case Rep Transplant (2012)
MeSH terms: Case Reports

Infections remain a major cause of morbidity and mortality in transplant patients. Organ recipients are also susceptible to donor-derived pathogens and the majority of donor infections are easily treatable. Rarely, some pathogens have produced life-threatening complications by compromising the vascular anastomosis. In this case series we report loss of two kidney allografts secondary to vascular complications due to Candida albicans. Both recipients received grafts from a common donor, in whom Candida bacteremia in the donor was not apparent at the time of organ acceptance but became apparent on delayed cultures.
Remdesivir Use in Low Weight, Premature, and Renally Impaired Infants With SARS-CoV-2 Infection in Sheikh Khalifa Medical City, UAE: Case Series
Authors: Wadha Mohammed, Nada Al Saqqa, Ayanbanke Ayanleke
Journal: Cureus (2023)
Keywords: covid 19, kidney disease, liver function tests (lfts), premature infants, remdesivir
MeSH terms: Case Reports

Remdesivir possesses in vitro inhibitory effect against severe acute respiratory syndrome coronavirus 2 and the Middle East respiratory syndrome. It works by inhibiting severe acute respiratory syndrome coronavirus 2 RNA-dependent RNA polymerase that is essential for viral replication. Remdesivir is approved by Food and Drug Administration for treating COVID-19 in hospitalized adult and pediatric patients aged 28 days and more and weighing 3 kg and more. This case series is describing two cases of low-weight, premature, and renally impaired infants where Remdesivir is used in Sheikh Khalifa Medical City pediatric intensive care unit. Upon completion of the Remdesivir course of treatment, there were no Remdesivir-related adverse outcomes noted in the two cases. Remdesivir was tolerated by both patients. However, clinical improvement and measurement of safety and efficacy will require further randomized, placebo-controlled trials.
Management of Congenital Clinical Anophthalmos with Orbital Cyst: A Kinshasa Case Report
Authors: Thomas Stahnke, Andreas Erbersdobler, Steffi Knappe, Rudolf F Guthoff, Ngoy J Kilangalanga
Journal: Case Rep Ophthalmol Med (2018)
MeSH terms: Case Reports

An early developmental lack of the optic vesicle can result in congenital anophthalmia, defined as a complete absence of the eye, which can be distinguished from congenital microphthalmos, where ocular rudiments are present. Here, a rare pediatric case of congenital clinical anophthalmos with orbital cyst in the left orbit is reported. The patient was a 14-month-old girl with no other congenital defects who underwent surgical and prothetic management in St. Joseph's Hospital Kinshasa, Democratic Republic of the Congo (DRC). Surgery was carried out under general anesthesia. The cyst was punctured and its wall fully excised. Near the orbital apex pigmented elements representing iris, ciliary body, and choroidal or retinal remnants were found. The specimens were fixed in formalin for histological examination. Surgical cyst removal including socket deepening for an artificial eye was performed. Postoperative wound healing was uneventful and a satisfactory cosmetic outcome was achieved in all follow-up examinations. Histological examination revealed rudimentary ocular structures similar to degenerated lens tissue with a typical, PAS-positive capsule. Additionally, pigmented epithelial structures, which seem to be of ciliary body, iris, and choroidal or retinal-type epithelium origin, could be detected, prompting the final diagnosis, microphthalmia with dominant cyst formation.
Spermatic cord metastasis of primary hepatocellular carcinoma presenting as an inguinal mass: a case report
Authors: Heng-Chieh Chiang, Pao-Hwa Chen, Hung-Jen Shih
Journal: ISRN Oncol (2011)
MeSH terms: Case Reports

Most spermatic cord masses are benign, and malignant spermatic cord tumors are uncommon. Spermatic cord metastases originating from hepatocellular carcinoma (HCC) have not been previously reported in the English language literature as determined by a PubMed search. We report a male patient who presented with a painful palpable mass in the right inguinal area. The patient was diagnosed with HCC in 2004 and undertook a nonsurgical approach to control the cancer. A radical orchiectomy was performed, and the pathological report showed metastatic HCC in the spermatic cord. The patient received palliative radiation therapy because of a positive surgical margin. No recurrence was noted after 6 months of followup.
Postpartum-Onset Moyamoya Disease: A Rare Cause of Stroke in Unexpected
Authors: Muhammet Ozer, Khadija Merchant, Zulfiya Manning, Suleyman Yasin Goksu, Kirti Juneja, Vernard S Fennell
Journal: Case Rep Neurol Med (2020)
MeSH terms: Case Reports

Moyamoya disease (MMD) is a chronic cerebrovascular occlusive disease that is characterized by progressive bilateral stenosis of the terminal portion of the internal carotid artery and its main branches. Cerebrovascular events are the primary presenting symptoms and are related both to stenosis and occlusion of the ICAs and their main branches. Detection of bilateral stenosis by cerebral angiography is considered the gold standard, but computed tomography angiography (CTA) is also an acceptable method of diagnosis. In the current literature, there are no precise data on the incidence of moyamoya disease in Europe and the United States. Also, the pathogenesis of MMD remains obscure, and genetic factors and inflammation are the two most representative mechanisms. Here, we report the case of MMD in a 29-year-old African American female who presented with an ischemic stroke for the second time that manifested after pregnancy. This case is important to increase awareness of the probability of this rare disease in Western countries as well as to call attention to pregnancy's accelerating effects of MMD. Careful, long-term neurologic and radiologic follow-up is essential in adult patients with MMD to prevent additional stroke events and improve outcomes.
The experience of sensorimotor integration of a lower limb sensory neuroprosthesis: A qualitative case study
Authors: Melissa S Schmitt, John D Wright, Ronald J Triolo, Hamid Charkhkar, Emily L Graczyk
Journal: Front Hum Neurosci (2023)
Keywords: amputation rehabilitation, home use, lower limb prosthesis, phantom limb, prosthesis embodiment, sensorimotor learning, sensory feedback, sensory neuroprosthesis

Introduction:
Lower limb prosthesis users often struggle to navigate uneven terrain or ambulate in low light conditions where it can be challenging to rely on visual cues for balance and walking. Sensory feedback about foot-floor interactions may allow users to reduce reliance on secondary sensory cues and improve confidence and speed when navigating difficult terrain. Our group has developed a Sensory Neuroprosthesis (SNP) to restore sensation to people with lower limb amputation by pairing electrical stimulation of nerves in the residual limb applied via implanted neurotechnology with pressure sensors in the insole of a standard prosthesis. Stimulation applied to the nerves evoked sensations perceived as originating on the missing leg and foot.
Methods:
This qualitative case study reports on the experiences of a 68-year-old with a unilateral trans-tibial amputation who autonomously used the SNP at home for 31 weeks. Interview data collected throughout the study period was analyzed using a grounded theory approach with constant comparative methods to understand his experience with this novel technology and its impacts on his daily life.
Results:
A conceptual model was developed that explained the experience of integrating SNP-provided sensory feedback into his body and motor plans. The model described the requirements of integration, which were a combination of a low level of mental focus and low stimulation levels. While higher levels of stimulation and focus could result in distinct sensory percepts and various phantom limb experiences, optimal integration was associated with SNP-evoked sensation that was not readily perceivable. Successful sensorimotor integration of the SNP resulted in improvements to locomotion, a return to a more normal state, an enhancement of perceived prosthesis utility, and a positive outlook on the experience.
Discussion:
These outcomes emerged over the course of the nearly 8 month study, suggesting that findings from long-term home studies of SNPs may differ from those of short-term in-laboratory tests. Our findings on the experience of sensorimotor integration of the SNP have implications for the optimal training of SNP users and the future deployment of clinical SNP systems for long-term home use.
Laparoendoscopic Single-Site Surgery for Management of Heterotopic Pregnancy: A Case Report and Review of Literature
Authors: Shadi Rezai, Richard A Giovane, Heather Minton, Elise Bardawil, Yiming Zhang, Ninad M Patil, Cassandra E Henderson, Xiaoming Guan
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Background:
Heterotopic pregnancy occurs when two pregnancies occur simultaneously in the uterus and an ectopic location. Treatment includes removal of the ectopic pregnancy with preservation of the intrauterine pregnancy. Treatment is done laparoscopically with either a Laparoendoscopic Single-Site Surgery (LESS) or a multiport laparoscopic surgery.
Case:
We present a case of a first trimester heterotopic pregnancy in a 42-year-old gravida 5, para 0-1-3-1 female with previous history of left salpingectomy, who underwent laparoscopic right salpingectomy and lysis of adhesions (LOA) via Single-Incision Laparoscopic Surgery (SILS).
Conclusion:
Although LESS for benign OB/GYN cases is feasible, safe, and equally effective compared to the conventional laparoscopic techniques, studies have suggested no clinically relevant advantages in the frequency of perioperative complications between LESS and conventional methods. No data on the cost effectiveness of LESS versus conventional methods are available. LESS utilizes only one surgical incision which may lead to decreased pain and better cosmetic outcome when compared to multiport procedure. One significant undesirable aspect of LESS is the crowding of the surgical area as only one incision is made. Therefore, all instruments go through one port, which can lead to obstruction of the surgeon's vision and in some cases higher rate of procedure failure resulting in conversion to multiport procedure.
Hemostatic instantaneous coagulation on echocardiogram: a defining feature of the last heartbeat (a case report)
Authors: Tokunbo David Gbadebo, Daniel Antwi-Amoabeng, Ademola Abiose
Journal: Pan Afr Med J (2022)
Keywords: echocardiography, cardiac arrest, case report, sinoventricular rhythm, spontaneous echo contrast
MeSH terms: Cardiopulmonary Resuscitation / methods, Heart Arrest / etiology, Heart Arrest / therapy, Hemostatics, Case Reports, Echocardiography, Heart Rate, Humans, Male, Middle Aged, Hemostatics

There is a paucity of detailed descriptions of echocardiographic features of the dying heart in the literature. A 64-year-old man on chronic hemodialysis presented with cardiac arrest after missing dialysis for three weeks. He received resuscitation efforts but died while his last heartbeats were fortuitously recorded by echocardiography. Rapid echo image acquisition during pulse check of a cardiopulmonary resuscitation attempt provided a unique opportunity for documenting the echocardiographic features of a dying heart. There was a rapid progressive dense echogenicity first in the left ventricular chamber and subsequently in all other chambers, which coincided with the final heartbeats. There is no prior documentation of this observation in the literature. We hereby illustrate and characterize this observation we term as Hemostatic Instantaneous Coagulation on Echo (HICE). HICE may be the defining feature of the dying heart and may guide the decision to discontinue resuscitation interventions.
Postmastectomy Breast Reconstruction With the Totally Autologous Latissimus Dorsi Flap in the Thin, Small-Breasted Woman: Give It More Thought!
Authors: Fawz Kazzazi, Rosanna C Ching, Charles M Malata
Journal: Eplasty (2018)
Keywords: autologous reconstruction, breast cancer, breast reconstruction, latissimus dorsi, mastectomy

Introduction: Thin women have fewer autologous tissue breast reconstructive options than their higher body mass index counterparts-due to a lack of adequate donor sites. They are therefore usually offered expander/implant techniques. The total autologous latissimus dorsi flap is generally used in "well-padded" individuals, as they have enough fat on their back on which a completely autologous reconstruction could be based. When implant-based reconstruction is contraindicated (for instance due to planned adjuvant radiotherapy) or unacceptable to the patient, the total autologous latissimus dorsi flap can provide adequate tissue volume by utilizing the additional back fat deposits even in the thin, small-breasted patient. This option is often overlooked by many surgeons. Our case series assesses indications and patient and surgeon satisfaction with the cosmetic outcome of this technique. Methods: The oncological and clinical details of 6 patients with breast cancer who underwent total autologous latissimus dorsi myocutaneous flap immediate breast reconstruction by a single surgeon over an 8-year period were reviewed. An objective assessment of satisfaction with the cosmetic result was made by whether any additional surgical interventions (ipsilateral fat grafting/implant augmentation or contralateral liposuction/ reduction) were needed or not. A subjective assessment of breast symmetry by the surgeon using photographic records was also undertaken. The aesthetic outcomes were also objectively quantified using the BCCT.core software, initially developed for assessing the results of breast conservation surgery. Results: All 6 patients had small breasts and a low or normal body mass index. The mastectomies were performed for invasive carcinoma (n = 3) and extensive high-grade ductal carcinoma in situ (n = 3). Four had axillary surgery (2 sentinel lymph node biopsies and 2 axillary clearances), and 3 received adjuvant radiotherapy. All were happy with their reconstructive outcomes, and none suffered major postoperative complications or disease recurrence. None requested or needed any subsequent ipsilateral adjustment or contralateral symmetrizing procedures. Subjectively, the reconstructions provided acceptable or excellent cosmetic results. The cosmetic results were categorized as excellent or good on the BCCT.core scoring system. Conclusion: This underutilized method of totally autologous breast reconstruction in thinner patients with lower body mass indexes yielded good, well-accepted cosmetic results without recourse to adjustment procedures, contralateral balancing surgery, or complex microvascular surgery. We recommend that the total autologous latissimus dorsi flap should be given more consideration when planning immediate breast reconstruction in this challenging group of thin, small-breasted patients.
Use of the Recombinant Tissue Plasminogen Activator in the Management of Complex Infected Intraperitoneal Fluid Collection
Authors: Aibek E Mirrakhimov, Michel Boivin
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Intra-abdominal infections and infected fluid collections are the result of local infection typically involving the gastrointestinal or genitourinary tract. These infections are usually polymicrobial. The management of such patients should include source control and appropriate antimicrobial therapy. Source control is essential and can be achieved either surgically or by percutaneous drainage of intra-abdominal fluid collection. Interventional radiology drainage of intra-abdominal fluid collections may be especially important in patients with high surgical risk or in patients who refuse surgery. Below, we present a case of successful use of recombinant intraperitoneal tissue plasminogen activator use in a patient with a complex polymicrobial fluid collection.
Targeting Treatment-Resistant Auditory Verbal Hallucinations in Schizophrenia with fMRI-Based Neurofeedback - Exploring Different Cases of Schizophrenia
Authors: Miriam S Dyck, Krystyna A Mathiak, Susanne Bergert, Pegah Sarkheil, Yury Koush, Eliza M Alawi, Mikhail Zvyagintsev, Arnim J Gaebler, Sukhi S Shergill, Klaus Mathiak
Journal: Front Psychiatry (2016)
Keywords: affect, anterior cingulate cortex, auditory hallucinations, brain–computer interface, functional magnetic resonance imaging, neurofeedback, schizophrenia, self-regulation
MeSH terms: Case Reports

Auditory verbal hallucinations (AVHs) are a hallmark of schizophrenia and can significantly impair patients' emotional, social, and occupational functioning. Despite progress in psychopharmacology, over 25% of schizophrenia patients suffer from treatment-resistant hallucinations. In the search for alternative treatment methods, neurofeedback (NF) emerges as a promising therapy tool. NF based on real-time functional magnetic resonance imaging (rt-fMRI) allows voluntarily change of the activity in a selected brain region - even in patients with schizophrenia. This study explored effects of NF on ongoing AVHs. The selected participants were trained in the self-regulation of activity in the anterior cingulate cortex (ACC), a key monitoring region involved in generation and intensity modulation of AVHs. Using rt-fMRI, three right-handed patients, suffering from schizophrenia and ongoing, treatment-resistant AVHs, learned control over ACC activity on three separate days. The effect of NF training on hallucinations' severity was assessed with the Auditory Vocal Hallucination Rating Scale (AVHRS) and on the affective state - with the Positive and Negative Affect Schedule (PANAS). All patients yielded significant upregulation of the ACC and reported subjective improvement in some aspects of AVHs (AVHRS) such as disturbance and suffering from the voices. In general, mood (PANAS) improved during NF training, though two patients reported worse mood after NF on the third day. ACC and reward system activity during NF learning and specific effects on mood and symptoms varied across the participants. None of them profited from the last training set in the prolonged three-session training. Moreover, individual differences emerged in brain networks activated with NF and in symptom changes, which were related to the patients' symptomatology and disease history. NF based on rt-fMRI seems a promising tool in therapy of AVHs. The patients, who suffered from continuous hallucinations for years, experienced symptom changes that may be attributed to the NF training. In order to assess the effectiveness of NF as a therapeutic method, this effect has to be studied systematically in larger groups; further, long-term effects need to be assessed. Particularly in schizophrenia, future NF studies should take into account the individual differences in reward processing, fatigue, and motivation to develop individualized training protocols.