OpenMed/multicare-articles huggingface dataset:
Intra-Arterial Chemotherapy: New Hope for Adult Retinoblastoma Treatment-A Case Report and Brief Review
Authors: Hamid Riazi-Esfahani, Babak Masoomian, Fariba Ghassemi
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

Background:
Adult retinoblastoma (RB) is a rare intraocular tumor, leading to delayed diagnosis and, eventually, enucleation of the involved eyes. Therefore, this diagnosis should be considered if attributable signs and symptoms occurred. Here, the authors report a case of an adult group D RB, treated successfully with intra-arterial chemotherapy (IAC) as primary treatment followed by cryotherapy. The authors briefly review the literature on the prognosis and management of adult RB. Case Presentation. A 22-year-old man has noticed floaters in his right eye for 2 months. Right eye examination revealed diffuse white spherical calcified vitreous seeds in all quadrants and a large white endophytic mass in the superonasal quadrant with engorged feeding vessels. Based on clinical data, the group D RB tumor was classified and the IAC was started with 2 medications, melphalan (5 mg) and topotecan (1 mg), for 3 cycles. Trans-scleral triple freeze-thaw cryotherapy was used as an adjunctive treatment at the latest hospital visit. Thirteen months after the last treatment, the RB tumor showed type 4 regression (flat chorioretinal scar) and no evidence of recurrence was identified.
Conclusion:
It seems that IAC, as the first line of treatment, either alone or in conjunction with adjuvant therapies may allow us to salvage the globe of adult patients involved with RB.
KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders
Authors: Liuyan Zhu, Lina Lv, Dingwen Wu, Jie Shao
Journal: Front Pediatr (2020)
Keywords: gtpts, kat6b, sbbyss, de novo variant, short stature
MeSH terms: Case Reports

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, OMIM#603736) and genitopatellar syndrome (GTPTS, OMIM#606170), characterized by global developmental delay/intellectual disability and special clinical manifestations, are two distinct clinically overlapping syndromes caused by truncating sequence variants in the KAT6B (10q22.2) gene. We detected a de novo heterozygous variant within exon 16 of KAT6B (Chr10p: 76781966-76781967) in a 7-months-old female infant who showed symptoms of short stature, global developmental delay, blepharophimosis, and lacrimal duct anomalies highly consistent with SBBYSS. Following the clinical features, we analyzed the KAT6B gene using Next Generation Sequencing (NGS) techniques. Her parents didn't present the same genetic variant. The patient we reported here is mainly characterized by syndromic forms of short stature and developmental delay, which may contribute to the understanding of clinical genetics for KAT6B-associated disorders.
Case report: Venetoclax therapy in a boy with acute myeloid leukemia in Shwachman Diamond syndrome
Authors: Samuele Naviglio, Antonio Giacomo Grasso, Chiara Iacono, Giada Zanella, Valentina Kiren, Nagua Giurici, Federico Verzegnassi, Natalia Maximova, Marco Rabusin
Journal: Front Pediatr (2023)
Keywords: shwachman diamond syndrome, acute myeloid leukemia, myelodysplastic syndromes, pediatric, venetoclax
MeSH terms: Case Reports

Shwachman-Diamond syndrome (SDS) is a rare bone marrow failure syndrome characterized by exocrine pancreatic insufficiency, bone abnormalities, progressive cytopenia, and predispositions to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). AML, in these patients, is associated with a poor prognosis and with an increased risk of organ toxicity and infectious complications from chemotherapy and hematopoietic stem cell transplantation (HSCT), thus leading to high rates of treatment-related morbidity and mortality. The BCL-2 inhibitor venetoclax has revolutionized the treatment of AML in elderly adults, especially for treatment-naive elderly patients who are ineligible for intensive chemotherapy. There is limited evidence on the use of venetoclax in pediatric patients with SDS-related MDS or AML. Here, we report a case of a 14-year-old boy with SDS with AML arising from MDS. The patient was treated with two cycles of conventional chemotherapy with fludarabine and cytarabine with an initial good response but immediate relapse and substantial toxicity. Treatment with venetoclax and azacitidine was started, with a substantial reduction of leukemic burden (good response on peripheral leukemic infiltration and partial response in the bone marrow after one course). However, it was followed by multiple infectious complications and worsening of the general condition not allowing treatment to be continued, and the patient eventually died from multiorgan failure. With the limitations of observation of a single patient, our experience suggests that venetoclax/azacitidine combination therapy may represent a therapeutic possibility for patients with SDS and AML, even though it may be associated with significant toxicity.
Synthetic Cannabis Overdose and Withdrawal in a Young Adult: A Case Report, Commentary on Regulation, and Review of the Literature
Authors: John Samaan, Gerardo F Ferrer, Boye Akinyemi, Patricia Junquera, Juan Oms, Rhaisa Dumenigo
Journal: Case Rep Psychiatry (2016)

Introduction. Marijuana has been used for its psychotropic effects including enhanced relaxation and perceptual alterations. However, the use of synthetic marijuana (SM) leads to more frequent and drastic side effects than the typical use of regular marijuana, owing to the fact that SM has a shorter duration and an earlier peak of action. Despite all the potential adverse health effects associated with SM use, current health policies on SM are very limited. It is believed that the popularity of SM has increased, due to its easy accessibility in the US and lack of detection in typical urine drug screens for THC. Case Report. One case presented is of a young adult patient, with histories of recurrent synthetic cannabis and recreational cannabis use, who had developed drastic physiological and psychiatric symptoms, including the development of acute-onset psychosis. Conclusion/Discussion. This case, as many others nationwide, exemplifies the impact of synthetic cannabinoid use and abuse in adolescents. Side effects and adverse health consequences of synthetic cannabinoid use warrant stricter regulations and policies in order to decrease psychiatric hospital admissions and associated healthcare costs.
Recall and Interviewer Bias in Parental Report of Pediatric Exposure to Aromatic Plant Ingredients in Personal Care Products: Development and Validation of a More Accurate Approach
Authors: Jessie Hawkins, Christy Hires, Elizabeth Dunne, Lindsey Keenan
Journal: J Environ Public Health (2021)
MeSH terms: Cosmetics, Environmental Exposure / statistics & numerical data, Health Surveys, Research Support, Non-U.S. Gov't, Bias, Child, Humans, Interviews as Topic, Mental Recall, Parents / psychology, Reproducibility of Results, Cosmetics

Lavender and tea tree essential oils are traditionally considered to be mild, gentle, and safe for pediatric populations and are ubiquitous in personal care products. Recent case reports have proposed a potential association between exposure to these ingredients and endocrine disruption, but these reports contain misclassification bias. The purpose of this study is to develop a reliable and valid measurement instrument for the accurate classification of exposure to aromatic plant ingredients in personal care products to be used in epidemiological studies. This study tested the Aromatic Plant Ingredients and Child Health Survey (APICHS) for validity and reliability, contrasting it with the current approach used in clinician's offices. The APICHS was found to have exceptional sensitivity and specificity (100% and 92.86%, respectively) with a positive predictive value of 97.22%, far exceeding the sensitivity and specificity of the method currently in use. The APICHS is a valid, reliable tool for accurate classification of exposure to aromatic plant ingredients in personal care products and should be used for the avoidance of misclassification.
Lymphomatous infiltration of the kidney in a patient with Waldenstrom's macroglobulinemia
Authors: Prasanth Ravipati, Lihong Bu, Zohar Sachs, Patrick H Nachman
Journal: Clin Nephrol Case Stud (2022)
Keywords: sars-cov-2, acute kidney injury, lymphoma, paraproteinemia, tubulointerstitial disease
MeSH terms: Case Reports

Kidney disease can be an initial presentation or a chronic manifestation of plasma cell dyscrasias. Here, we describe a rare presentation of kidney disease driven by lymphomatous infiltration of the kidney in a patient with Waldenstrom's macroglobulinemia (WM). A 70-year-old female with an 8-year history of WM (IgM, κ) was referred for declining renal function. Prior to presentation, she had stable WM disease without evidence of worsening disease burden. She had been previously hospitalized with SARS-CoV-2 infection and acute kidney injury (AKI). Her serum creatinine (sCr) peaked at 3.7 mg/dL (baseline 0.9 mg/dL) but recovered to 1.1 mg/dL by the time of discharge. Two months after discharge, her sCr increased to 1.9 mg/dL, and she had new proteinuria of 1.5 g/day. Kidney biopsy showed lymphomatous infiltration of the interstitium without glomerular involvement. Treatment with rituximab and bendamustine resulted in an improvement in renal function (sCr 1.4 mg/dL). WM is an uncommon hematologic malignancy, and extramedullary involvement, including renal involvement, is rare. This case emphasizes the importance of surveillance for kidney dysfunction in patients with plasma cell dyscrasias, even if patients appear to have stable lymphoproliferative disease.
Toxicological Characterization of GHB as a Performance-Enhancing Drug
Authors: Arianna Giorgetti, Francesco Paolo Busardò, Raffaele Giorgetti
Journal: Front Psychiatry (2022)
Keywords: forensic toxicology, gamma hydroxybutyrate (ghb), performance-enhancing drugs (peds), psychoactive performance, sodium oxybate
MeSH terms: Review

Performance-enhancing drugs (PEDs) are represented by several compounds used to ameliorate the image, the appearance, or an athletic or non-athletic performance. Gamma-hydroxybutyrate (GHB) is an endogenous molecule first used as anesthetic and then marketed as a nutritional supplement with a wide diffusion in the bodybuilding community. The aim of the present work is to provide a toxicological characterization of the use of GHB as a PED, including the scientific basis for its use, the patterns of use/abuse, and the health risks arising from its consumption in this peculiar recreative setting. A literature search was performed on multiple databases including experimental studies on humans and animals as well as epidemiological reports and forensic case reports/series. Experimental studies demonstrated that the use of GHB as a PED is motivated by the release of growth hormone and the induction of sleep. However, the panel of desired performance-related effects was much wider in real cases and epidemiological studies. Even though the use of GHB among bodybuilders has decreased, its use to enhance some kind of performance, particularly sexual ones or social-communicative ones, as well as means to increase mood and perceived energy, is still common.
Consequences of Misdiagnosed and Mismanaged Hereditary Angioedema Laryngeal Attacks: An Overview of Cases from the Romanian Registry
Authors: Dumitru Moldovan, Noémi Bara, Valentin Nădășan, Gabriella Gábos, Enikő Mihály
Journal: Case Rep Emerg Med (2018)
MeSH terms: Case Reports

Emergency department (ED) physicians frequently encounter patients presenting with angioedema. Most of these involve histamine-mediated angioedema; however, less common forms of angioedema (bradykinin-mediated) also occur. It is vital physicians correctly recognize and treat this; particularly since bradykinin-mediated angioedema does not respond to antihistamines, corticosteroids or epinephrine and hereditary angioedema (HAE) laryngeal attacks can be fatal. Here we present four case reports illustrating how failures in recognizing, managing, and treating laryngeal edema due to HAE led to asphyxiation and death of the patient. Recognition of the specific type of angioedema is critical for rapid and effective treatment of HAE attacks. Bradykinin-mediated angioedema should be efficiently differentiated from the most common histamine-mediated form. Improved awareness of HAE and the associated risk of life-threatening laryngeal edema among emergency physicians, patients, and relatives and clear ED treatment protocols are warranted. Moreover, appropriate treatments should be readily available to reduce fatalities associated with laryngeal edema.
Congenital ileal-mesenteric fibrous band remnant of the vitelline artery causing small bowel obstruction in an adult female: a case report
Authors: Prince Kasongo Mwila, Anchre Tersia Odendaal, Oula Ibrahim Ahmed, Baudouin Kongolo Kakudji
Journal: Pan Afr Med J (2022)
Keywords: congenital, adult, case report, fibrous band, small bowel obstruction
MeSH terms: Intestinal Obstruction / etiology, Intestinal Obstruction / surgery, Meckel Diverticulum / complications, Meckel Diverticulum / diagnosis, Meckel Diverticulum / surgery, Vitelline Duct / abnormalities, Case Reports, Adult, Arteries, Female, Humans, Ileum / surgery

The vitelline circulation connects the fetus and yolk sac in the first few weeks of fetal development. Its components are the vitelline duct, vitelline arteries and vitelline vein. This gradually breaks down as the placenta grows and overtakes the function of yolk sac as the primary nutrition source. In the event of persistence of these structures, multiple anatomical anomalies can arise such as a Meckel´s diverticulum, fibrous bands and others. We report on a rare finding of an ileal-mesenteric fibrous band remnant of a vitelline artery causing small bowel obstruction in an adult female. Our patient, a 40-year-old female presented with both clinical and radiological signs of small bowel obstruction. She had had no previous abdominal surgery or abdominal trauma. Intraoperatively we found an isolated ileal-mesenteric fibrous band situated at approximately 7 cm from the ileocecal junction. It spanned from the antimesenteric border of the terminal ileum to the border of the mesentery at a 15 cm breadth. In the snare-like loop that was created, part of the small bowel was trapped, creating a strangulated internal hernia which presented as a small bowel obstruction. The fibrous band was transected and the viable small bowel was freed during a laparotomy procedure. The post-operative period was uneventful and the patient was discharged on day 5. A fibrous band should be considered one of the rare causes of small bowel obstruction in a virgin abdomen in adults.
Bilateral florid papillomatosis of the nipple: an unusual indicator for metachronous breast cancer development-a case report
Authors: Walid Sasi, Dibyesh Banerjee, Kefah Mokbel, Anup K Sharma
Journal: Case Rep Oncol Med (2014)

Adenoma or florid papillomatosis of the nipple (FPN) is a rare benign disease which has histopathological features similar to those of a mammary papillary carcinoma. Here, we report a rare case of bilateral florid papillomatosis of the nipple and breast cancer, with a literature review.
Metastatic deposits of breast lobular carcinoma to small bowel and rectum
Authors: W Eljabu, G Finch, J Nottingham, N Vaingankar
Journal: Int J Breast Cancer (2011)
MeSH terms: Case Reports

Breast cancer is the most frequent malignancy in women accounting for approximately 32% of all cancers, with a lifetime risk of 1 in 10. It causes considerable morbidity and mortality. Recently, the survival rate has dramatically increased due to early detection of the disease and improvement in the treatment measures. However, more than 30% of the patients develop metastatic diseases following surgical treatment, radiotherapy, hormonal therapy, or chemotherapy. Distant spread is usually found in bones, lungs, liver, brain and skin. Rarely, it spreads to bowel, spleen, gallbladder, pancreas, urinary bladder, and eyes. Breast cancer is the second commonest primary tumour responsible for gastrointestinal metastases after malignant melanoma. We report a case of a Caucasian female who developed an intestinal obstruction secondary to metastatic deposits to the small bowel and later to the rectum from breast lobular carcinoma 2 years after mastectomy, axillary clearance, radiotherapy, hormonal therapy, and transverse rectus abdominis myocutaneous (TRAM) flap for reconstruction.
Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles
Authors: Nan Jiang, Rocio Vazquez Do Campo, Mohamed Kazamel
Journal: Front Neurol (2023)
Keywords: hint1 mutation, charcot-marie-tooth (cmt), motor-predominant neuropathy, neuromyotonia, rimmed vacuoles
MeSH terms: Case Reports

Introduction:
Recessive mutations in the gene encoding the histidine triad nucleotide-binding protein 1 (HINT1) are associated with axonal motor-predominant Charcot-Marie-Tooth (CMT) disease with neuromyotonia. A total of 24 HINT1 gene mutations have been reported so far. Some of these cases had mild to moderate elevations of creatinine kinase with no earlier reports of muscle biopsy findings in these cases. In this study, we describe a patient with axonal motor-predominant neuropathy and myopathy with rimmed vacuoles, likely due to a novel HINT1 gene mutation.
Case report:
A 35-year-old African American man presented with insidious onset and progressive symmetric distal leg weakness followed by hand muscle atrophy and weakness since the age of 25. He had no muscle cramps or sensory complaints. His 38-year-old brother developed similar symptoms beginning in his early 30 s. On neurologic examination, the patient had distal weakness and atrophy in all limbs, claw hands, pes cavus, absent Achilles reflexes, and normal sensory examination. Electrodiagnostic studies revealed absent/reduced compound motor action potential amplitudes distally with normal sensory responses with no neuromyotonia. His sural nerve biopsy showed a chronic non-specific axonal neuropathy, and a biopsy of the tibialis anterior muscle demonstrated myopathic features and several muscle fibers harboring rimmed vacuoles without inflammation in addition to chronic denervation changes. A homozygous variant, p.I63N (c.188T > A), in the HINT1 gene was found in both brothers.
Conclusion:
We describe a novel, likely pathogenic, HINT1 pI63N (c.188T > A) homozygous variant associated with hereditary axonal motor-predominant neuropathy without neuromyotonia in two African American brothers. The presence of rimmed vacuoles on muscle biopsy raises the possibility that mutations in the HINT1 gene may also cause myopathy.
Intestinal Giardiasis Disguised as Ulcerative Colitis
Authors: Yu Zhen, Lin Liao, Hu Zhang
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Parasite-associated colitis is quite rare in clinical practice of Ulcerative Colitis (UC). Here we reported an intestinal giardiasis case that has been diagnosed with UC. Further examination of stool revealed cysts of Giardia. This case completely responded to Albendazole. Giardiasis should be included for the differential diagnosis of UC.
Labor Analgesia in Brugada Syndrome and the Importance of Contingency Planning
Authors: Shayla Mena, Ana Costa, Michelle DeLemos, Joy Schabel, Morgane Factor
Journal: Case Rep Anesthesiol (2022)
MeSH terms: Case Reports

Brugada syndrome is an autosomal dominant disorder that affects cardiac sodium channels and predisposes patients to an increased risk of sudden cardiac death. Obstetric anesthesia management in patients with Brugada syndrome poses a challenge due to the prevalence of local anesthetic use for labor analgesia or cesarean section. However, central neuraxial techniques and local anesthetics have been used safely in parturients with this syndrome and may be offered to patients during preadmission counseling. We present the case of a primigravida who opted for further labor analgesia via a combined spinal-epidural technique. To our knowledge, this is the first case report of a lidocaine infusion administered via an epidural catheter to a laboring parturient with Brugada syndrome. We further discuss the use of local anesthetics, other medications, and central neuraxial techniques in those with Brugada syndrome to assist anesthesiologists caring for expectant mothers.
Hepatic rupture: A case report of a severe complication of percutaneous catheter drainage
Authors: Liang Zhang, DaLong Wan, LeLe Zhang, ShiGuo Xu, HaiYang Xie, ShengZhang Lin
Journal: Medicine (Baltimore) (2018)
MeSH terms: Catheters, Drainage / instrumentation, Liver / injuries, Liver Abscess, Pyogenic / therapy, Rupture / etiology, Case Reports, Aged, Diabetes Complications / diagnostic imaging, Humans, Liver / diagnostic imaging, Liver Abscess, Pyogenic / complications, Liver Abscess, Pyogenic / diagnostic imaging, Male

Rationale:
Currently, percutaneous catheter drainage (PCD) is regarded as the first-line treatment modality of pyogenic liver abscess. Severe complications associated with PCD were uncommon. Hepatic rupture is an uncommon but life-threatening liver trauma with high mortality. Its management is challenging because a delay in the diagnosis may lead to fatal hemorrhagic shock. To our knowledge, PCD-associated hepatic rupture has never been reported.
Patient concerns:
We report herein a rare case of PCD-associated hepatic rupture. Its clinical courses and our therapeutic approaches are presented. Moreover, the clinical significance, underlying causes, and current views on severe liver trauma management will be discussed briefly.
Diagnoses:
A diabetic patient suffering from fever and malaise was diagnosed with a pyogenic liver abscess. PCD was performed because intravenous antibiotics were ineffective. The patient developed a liver rupture following PCD, with clinical and imaging confirmation but without further progression.
Interventions:
Surgical repair and vascular intervention were both inappropriate. As a result, medical treatments with supportive care were adopted and were found to be effective.
Outcomes:
The patient's condition improved gradually, with stabilized imaging and laboratory performance. He recovered uneventfully during follow-ups.
Lessons:
Hepatic rupture should be listed as an extremely rare but severe complication of PCD. Immediate suspicion and effective intervention may avoid an unfavorable consequence.