OpenMed/multicare-articles huggingface dataset:
Duodenal stenosis, an unusual presentation of eosinophilic gastroenteritis: a case report
Authors: Clelia Di Mari, Elena Pozzi, Cecilia Mantegazza, Francesca Destro, Milena Meroni, Marina Coletta, Andrea Sorge, Gloria Pelizzo, Gian Vincenzo Zuccotti
Journal: Front Pediatr (2024)
Keywords: case report, eosinophilic gastroenteritis, quality of life, stenosis, surgical treatment
MeSH terms: Case Reports

Eosinophilic gastrointestinal diseases (EGIDs) are rare, chronic inflammatory disorders characterized by eosinophilic infiltration of the gastrointestinal tract. Symptoms and clinical presentations vary depending on the site and layer of the gastrointestinal wall infiltrated by eosinophils. Gastrointestinal obstruction is a serious, though uncommon, presentation. Management can be extremely challenging because of the rarity of the condition and the lack of robust scientific evidence. Current treatment approaches for EGIDs mainly focus on elimination diets, proton pump inhibitors and corticosteroids, which present high refractoriness rates. Novel targeted therapies are being investigated but not routinely used. Surgery should be avoided as far as possible; however, it may be the only option in gastrointestinal obstruction when long-term remission cannot be attained by any medical strategy. Herein we report the case of an adolescent boy affected by an eosinophilic gastrointestinal disease with progressive duodenal stenosis, refractory to medical therapy, who successfully benefitted from surgical management. He presented with a one-year history of gastrointestinal obstructive symptoms with feeding intolerance. After the diagnostic workup, he was diagnosed with an eosinophilic gastrointestinal disease (esophagitis and enteritis) with a duodenal involvement causing a progressive duodenal stenosis. Due to refractoriness to the conventional medical therapies and the consequent high impact on his quality of life, related both to the need for enteral nutrition and repeated hospitalizations, we decided to perform a gastro-jejunum anastomosis, which allowed us to obtain a clinical and endoscopic long-term remission. The early discussion of the case and the involvement of all experienced specialists, pediatricians and pediatric surgeons is essential.
Unusual presentation of secondary syphilis mimicking erythema multiforme in HIV positive patient: a case report
Authors: Amira Suryani Rahmatika, Dwi Murtiastutik, Afif Nurul Hidayati, Astindari, Maylita Sari, Septiana Widyantari, Regitta Indira Agusni, Linda Astari
Journal: Pan Afr Med J (2023)
Keywords: hiv, secondary syphilis, case report, erythema multiforme, targetoid lesions
MeSH terms: Erythema Multiforme / diagnosis, HIV Infections / complications, HIV Infections / diagnosis, HIV Infections / drug therapy, Syphilis / drug therapy, Case Reports, Adult, Erythema / drug therapy, Humans, Male, Penicillin G Benzathine, Penicillin G Benzathine, Syphilis, secondary

Secondary syphilis is known as "The Great Imitator". It can mimic numerous diseases clinically and histologically, including erythema multiforme (EM). Coinfection with HIV often makes its manifestations more atypical leading to delays in diagnosis and therapy. A 34-year-old male-sex-male patient who had received coronavirus disease 2019 (COVID-19) vaccine 1 week earlier presented with complaints of slightly pruritic scaly erythematous targetoid plaques and erythematous macules on the trunk and extremities for 6 weeks. Histopathology examination showed basal cell vacuolar degeneration of the epidermis and lymphocytic infiltrates along the dermal-epidermal junction and superficial dermis, consistent with EM. Upon further investigation, syphilis and HIV serology were reactive (VDRL 1: 128, TPHA 1: 40960, CD4+ 461 cells/µl). Lesions improved significantly after a single dose of 2,4-million units of benzathine penicillin intramuscular injection. Secondary syphilis presenting as erythema multiforme (EM)-like eruptions is very rare. Physicians should be aware of this unusual presentation to prevent complications.
Complete androgen insensitivity syndrome coexisting with müllerian duct remnants: a case report and literature review
Authors: De-Lu Chen, Song Guo, Qiu-Li Chen, Shan-Jiao Qiu, Yu-Ying Xu, Jun Zhang, Hua-Mei Ma, Yan-Hong Li
Journal: Front Pediatr (2024)
Keywords: müllerian duct regression, müllerian duct remnants, complete androgen insensitivity syndrome, disorder of sexual development, testicular feminization syndrome
MeSH terms: Case Reports

This study represents the first documentation of the coexistence of complete androgen insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland China. Additionally, we provide a comprehensive review of the existing literature concerning CAIS with MDRs resulting from androgen receptor (AR) gene mutations. This study broadens the clinical spectrum of CAIS and offer novel insights for further exploration into Müllerian duct regression. A 14-year-old patient, initially raised as female, presented to the clinic with complaints of "primary amenorrhea." Physical examination revealed the following: armpit hair (Tanner stage 2), breast development (Tanner stage 4 with bilateral breast nodule diameter of 7 cm), sparse pubic hair (Tanner stage 3), clitoris measuring 0.8 cm × 0.4 cm, separate urethral and vaginal openings, and absence of palpable masses in the bilateral groin or labia majora. The external genital virilization score was 0 points. Serum follicle-stimulating hormone level was 13.43 IU/L, serum luteinizing hormone level was 31.24 IU/L, and serum testosterone level was 14.95 nmol/L. Pelvic magnetic resonance imaging (MRI) did not reveal a uterus or bilateral fallopian tubes, but nodules on both sides of the pelvic wall indicated cryptorchidism. The karyotype was 46,XY. Genetic testing identified a maternal-derived hemizygous variation c.2359C > T (p.Arg787*) in the AR gene. During abdominal exploration, dysplastic testicles and a dysplastic uterus were discovered. Histopathological analysis revealed the presence of fallopian tube-like structures adjacent to the testicles. The CAIS patient documented in this study exhibited concurrent MDRs, thus expanding the spectrum of clinical manifestations of AIS. A review of prior literature suggests that the incidence of CAIS combined with histologically MDRs is not uncommon. Consequently, the identification of MDRs in AIS cases may represent an integral aspect of clinical diagnosis for this condition.
Case report: Primary familial brain calcification associated with a rare PDGFRB variant, coexisting with nontraumatic osteonecrosis of the femoral head
Authors: Conghui Cao, Jing Luo, Xiaoli Wang
Journal: Front Neurosci (2024)
Keywords: pdgfrb, case report, osteonecrosis of the femoral head, primary familial brain calcification, whole-exome sequencing
MeSH terms: Case Reports

Primary familial brain calcification (PFBC) is a rare genetic neurodegenerative disorder characterized by bilateral calcifications in the brain. PFBC may manifest with a broad spectrum of motor, cognitive, and neuropsychiatric symptoms. Several causal genes have been identified in PFBC, which are inherited as both autosomal dominant and autosomal recessive traits. Herein, we present the case of a Chinese family diagnosed with PFBC. The family members carry a rare heterozygous variant (p. R334Q) in exon 7 of platelet-derived growth factor receptor β (PDGFRB) gene. The platelet-derived growth factor-B/PDGF receptor β (PDGF-B/PDGFRβ) signaling pathway plays a crucial role in pericyte development in various organs and tissues. Notably, this variant uniquely coexists with nontraumatic osteonecrosis of the femoral head. Additionally, we reviewed previous studies on PFBC-causing variants in PDGFRB.
Neurological and vestibular findings in three cases of Multiple Sclerosis
Authors: Alanna Stefany de Lima Evangelista, José Diniz Júnior, Ana Paula Machado Costa, Mário Emílio Teixeira Dourado Júnior, Erika Barioni Mantello
Journal: Codas (2023)
MeSH terms: Multiple Sclerosis / complications, Multiple Sclerosis / diagnostic imaging, Vestibule, Labyrinth, Case Reports, Head Impulse Test / methods, Humans

Multiple sclerosis (MS) is a chronic and inflammatory autoimmune disease that affects the central nervous system (CNS). Dysfunction of body balance is also a common symptom and may be related to neurological injuries resulting from this disease. The aim of this study was to characterize the neurological and vestibular findings of three clinical cases diagnosed with MS. Data on the neurological evaluation and the magnetic resonance imaging of the skull were collected from the medical records. The patients responded to an initial interview and underwent clinical assessment of body balance and Video Head Impulse Test (vHIT). Vestibular symptoms and alterations were observed in at least one of the clinical tests of body balance and cerebellar function. In vHIT, changes were obtained in oculomotor tests, such as the presence of semi-spontaneous nystagmus and in parameters of the saccade test, and reduced gain in one or more vertical channels. Lesions were found on MRI of the skull in central areas that process vestibular information, such as the cerebellum and brainstem. The association of these findings suggests the presence of central vestibular dysfunction, compatible with the lesions detected in imaging exams.
Person-centered aural rehabilitation program improved mood, cognition, and auditory processing in a professional musician who uses a hearing aid and cochlear implant: Case Report
Authors: Christine Brennan, McKenna Spence-Olson, Kayla Cormier, Sherri Tennant, Anu Sharma
Journal: Front Rehabil Sci (2024)
Keywords: aural rehabilitation, case study, electrophysiology, hearing loss, home practice program, music, music enjoyment, person-centered
MeSH terms: Case Reports

Introduction:
Aural rehabilitation focused on music for individuals with cochlear implants (CIs) and/or hearing aids (HAs) typically emphasizes perceptual skills rather than enjoyment of music. Yet, those with CIs and/or HAs often struggle to enjoy music, complaining that it sounds distorted with the implant or HAs. Typically, aural rehabilitation programs require a significant time commitment, but this may not be feasible or preferable for many patients. This study aimed to evaluate the efficacy of two individualized intensive 3-week home practice programs focused on enjoyment of music, a personal goal for this subject.
Methods:
The subject was a professional musician who used a CI and HA. Cognitive measures of global cognitive function, executive function, processing speed, auditory working memory, visual-spatial abilities, verbal fluency, and auditory-verbal memory, as well as auditory electrophysiology (EEG) measures were conducted pre-post experiment 2. Two experiments were undertaken to evaluate responses to two practice programs that incorporated different variations in listening dosage and intervention activities.
Results:
Experiment 1 resulted in minimal measurable improvements related to music likability ratings, with the highest dosage condition showing a small increase in average likability rating from baseline to week 3. The results of experiment 2 revealed an improvement in likability ratings only when dosage steadily increased each week. The subject also reported improved mood and decreased frustration during weeks two and three of experiment 2. Finally, we found improvement pre-post experiment 2 on several cognitive and EEG measures.
Discussion:
The results of these experiments are encouraging and support the use of an individualized, person-centered, and semi-structured home practice program to increase music enjoyment and improve quality of life and auditory processing for individuals with hearing loss. Future studies should aim to increase sample size and explore pairing person-centered home practice programs with concurrent clinician-lead aural rehabilitation.
The Regentime stem cell procedure, successful treatment for a Charcot-Marie-Tooth disease case
Authors: Nassim H Abi Chahine, Vanessa J Mansour, Lea I Nemer, Cynthia F Najjoum, Elsa A El Asmar, Rita T Boulos
Journal: Clin Case Rep (2023)
Keywords: cmt, charcot–marie–tooth disease, pmp22, regentime procedure, autologous stem cell therapy, bone marrow mononuclear progenitor stem cells, neurodegenerative disease, neurological disorder, peripheral neuropathy, regenerative medicine
MeSH terms: Case Reports

This report highlights the successful treatment of a Charcot-Marie-Tooth disease case using the Regentime stem cell procedure, suggesting its potential as a promising therapeutic approach for patients suffering from this challenging condition.
Too Much Salt to My Taste: An Entity to Think about in Neonatal Hypernatremia: A Case Report and Review of the Literature
Authors: Marwa El Masri, Lidiya Samotiy-Hanna, Ramy Ghabril, Yolla Nassif, Dany Al Hamod
Journal: Case Rep Pediatr (2024)
MeSH terms: Case Reports

In exclusively breastfed newborns, hypernatremic dehydration is associated with a free water deficit secondary to insufficient fluid intake. Failure of newborns to regain their birth weight by the 10th day of life should be investigated urgently. In this report, we present a case of a 2 -week-old girl who presented to our institution for 30% weight loss and was found to have severe hypernatremic dehydration associated with acute renal failure (creatinine 4 mg/dL). Upon further investigation, the breast milk sodium content was found to be extremely elevated (90 mEq/L). To our knowledge, the following reported case of severe neonatal hypernatremic dehydration associated with acute renal failure has the most elevated breast milk sodium content, serum sodium, and serum creatinine levels described in the literature. Thus, hypernatremic dehydration secondary to elevated breast milk content should always be borne in mind and investigated whenever suspected.
Trastuzumab deruxtecan effectively controlled recurrent ovarian large-cell neuroendocrine carcinoma with low-level HER-2 expression: a case report
Authors: Yurou Xing, Yidan Cao, Xin Wu, Yue Chen, Yongsheng Wang
Journal: Front Oncol (2024)
Keywords: adcs, her2, neuroendocrine cancer, ovary, trastuzumab
MeSH terms: Case Reports

Large-cell neuroendocrine carcinoma (LCNEC) of the ovary is an extremely rare tumor with invasive clinical behavior and poor outcome. However, there is no consensus on the optimal treatment strategy. Surgery followed by chemotherapy is considered the most common therapeutic option. Here, we report a case of a 55-year-old woman with ovarian LCNEC who relapsed after radical surgery and multiple lines of therapy. The tumor lesions continued to grow, and further immunohistochemistry showed low human epidermal growth factor receptor 2 (HER2) expression. After treatment with the anti-HER2 drug trastuzumab deruxtecan (T-DXd, formerly DS-8201a), the tumor burden was significantly reduced, and the patient achieved a progression-free survival (PFS) of 4 months. Our case provides a potential treatment option for recurrent ovarian LCNEC with low-level HER2 expression.
Integration of palliative care in the management of oral squamous cell carcinoma
Authors: Republica Sridhar, Huwait Etimad, Peter Natesan Pushparaj, Gauthaman Kalamegam
Journal: Bioinformation (2023)
Keywords: holistic care, multi-disciplinary team, oral squamous cell cancers, palliative care, standard oncological care

Oral Squamous cell Cancers (OSCC) is strongly associated with tobacco consumption. We here in present a case study of a OSCC patient who refused standard oncological care (SOC), to highlight the importance of integrating palliative care (PC) for improved patient outcomes. A 61 years male patient, with history of chewing tobacco for more than 20 years and diagnosed to have OSCC for 1.5 years presented with severe anaemia and a cauliflower-like growth (12 x 10 cm) in the left oral cavity and cheek with greenish-yellow discharge. Pus culture was positive for K. pneumoniae and P. aeruginosa. Patient is also a known hypertensive for 15 years and a diabetic for 7 years on allopathic treatment. However, the patient refused SOC for oral cancer and relied on siddha treatment. Packed cell transfusions were given to correct anaemia and the blood glucose levels was kept under control. Frequent wound debridement, oral care, antibiotics, balanced-diet and hydration improved wound-bed granulation. Patient and family members were counselled and explained in detail on the need for SOC by sharing previous OSCC patients' care and outcomes at our centre. Patient gained trust and courage and agreed for chemotherapy, which reduced the disease burden and improved the quality of life (QoL) considerably. Therefore, PC integration at an early stage of treatment is imperative as it reduced (i) the burden of secondary infection, (ii) pain and distress, and (iii) improved the QoL.
Self-reported low self-esteem due to poor maternal care improves with the existential approach in bipolar disorder: a case report
Authors: Hirofumi Hirakawa, Takeshi Terao, Nobuko Kawano
Journal: Front Psychiatry (2023)
Keywords: awakening experience, bipolar disorder, existential approach, maternal care, self-esteem
MeSH terms: Case Reports

Parental nurturing attitudes influence children and are linked to the establishment of self-esteem. Females who have experienced poor maternal care during their childhood may have low self-esteem, and this factor may significantly augment the likelihood of depression. Particularly, childhood maltreatment among individuals with bipolar disorder is associated with unfavorable clinical features, such as a heightened risk of severe manic, depressive, or psychotic symptoms, as well as suicide attempts. Here, we report a case of a woman with bipolar disorder who had self-reported low self-esteem due to poor maternal care, which subsequently improved via an existential approach. This existential approach confers meaning to the lives of every individual, even in the face of adversity. Our findings suggest that the existential approach may enable the discovery of more positive life values during times of hardship and could improve self-reported low self-esteem due to poor maternal and change the way of life in patients with bipolar disorder.
Manifestation of Guillain-Barre Syndrome in a Case of Monkeypox Virus Infection: A Rare Case Report
Authors: Tariq Abdul Hamid, Nayab Mustafa, Almas Zulfiquar Parkar, Sherin Marina Varghese, Ossama Sayedahmed, Mohammed Ghanaim
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Monkeypox virus (MPXV) is one of the rare zoonotic infections caused by orthopoxvirus. MPXV has recently been an evolving threat to public health with its contagious human-to-human transmission. Various presentations of MPXV infection have been reported ranging from generalised symptoms such as fever, chills, body aches, and swollen lymph nodes to dermatological presentations. Neurological manifestations that have been reported include headaches, myalgia, seizures, and even mood disturbances. Postinfectious complications such as encephalitis, vision problems, and skin infections have also been noticed. Guillain-Barre Syndrome (GBS) is an acquired acute inflammatory polyradiculoneuropathy characterized by progressive, symmetrical, proximal, and distal tingling and weakness. Although various microorganisms are known to cause GBS and have been linked to the smallpox vaccine, they are rarely linked to MPXV disease. In this report, we describe a case of a confirmed monkeypox infection in a patient presenting with Guillain-Barre Syndrome.
Management of a 25-Year-Old Female Patient With Limb-Girdle Muscular Dystrophy With Physiotherapy: A Case Report
Authors: Sojwal P Nandanwar, Swadha P Udhoji, Raghumahanti Raghuveer
Journal: Cureus (2024)
Keywords: dynamic balance and postural stability, fatigue, gait, limb-girdle muscle dystrophy, limb-girdle muscular dystrophy type2a (lgmd2a), muscle strength, neurophysiotherapy, proximal muscle weakness, range of motion (rom)
MeSH terms: Case Reports

Limb-girdle muscular dystrophy (LGMD) is a collection of neuromuscular diseases that develop gradually and are rare, genetically, and clinically diverse. The weakness in muscles affecting the shoulder and pelvic girdles is a defining feature of LGMD. Calpainopathy is another name for limb-girdle muscular dystrophy type 2A (LGMD2A). Limb-girdle muscular dystrophy type 2A results from alterations in the calpain-3 (CAPN3) gene, which results in a CAPN3 protein shortage. Gower's sign is most commonly found in LGMD2A. The prevalence ranges from one person in every 14,500 to one in every 123,000. We present a case of a 25-year-old hypotensive female patient who complained of weakness in all four limbs and easy fatigue with a positive Gower's sign. For subsequent management, the neurologist referred the patient to the physical therapy department. The physical therapy goals included enhanced muscle strength, increased joint mobility, reduced fatigue, normalizing gait, and building dynamic balance and postural stability. Diagnosing LGMD clinical variability is important, emphasizing the importance of precise subtype identification and tailoring therapy. Tackling specific muscular deficits and functional restrictions emerges as a critical component in the holistic care of LGMD by physiotherapists. Continuous monitoring and evaluation using appropriate scales and measurements are essential for tracking performance and tailoring treatment strategies. Regular follow-up consultations with the physiotherapist are needed to identify changes in an individual's health and alter the treatment plan accordingly.
Ureteroinguinal Herniation with Consecutive Ureteral Stricture in a 2-Month-Old Infant: Case Report
Authors: Carlos Delgado-Miguel, Antonio Jesus Muñoz-Serrano, Pablo Aguado, Ennio Fuentes, Ricardo Díez
Journal: European J Pediatr Surg Rep (2024)
Keywords: herniation of the ureter, hydronephrosis, upper urinary tract obstruction, ureteroinguinal hernia
MeSH terms: Case Reports

Inguinal herniation of ureter is an uncommon finding among children, with scarce reported cases in the literature to date, that can potentially lead to obstructive uropathy. We report a case of ureteroinguinal herniation discovered during an inguinal hernia repair in a patient with antenatally ultrasound finding of hydronephrosis. A 2-month-old infant with antenatal left hydronephrosis presented with left inguinal mass. Preoperative ultrasound showed an anechoic tubular image producing a mass effect on the left testicle, with suspected bladder herniation and/or dilated ureter toward the inguinal canal. An open surgical inguinal exploration was performed, where the left inguinal canal revealed a peritoneal sac and sliding of the dilated left ureter behind the sac, with a significant change in diameter, corresponding to the paraperitoneal variant of ureteroinguinal herniation. Ligation of the sac and replacement of the ureter into the retroperitoneum were performed, with improvement in the hydronephrosis observed on the ultrasound 1 month after the intervention. However, 6 months later, hydronephrosis worsening as well as the obstructive pattern observed in the diuretic renogram required removal of the stenotic ureteral segment and reimplantation of the healthy proximal segment in the bladder by open approach (Cohen's reimplantation). Follow-up ultrasound of the renal tract showed no dilatation of the upper renal tract and the renal function tests were normal. Currently, the patient is 2 years old and he remains asymptomatic. In conclusion, s igns of ureteral obstruction such as hydronephrosis in patients with inguinal herniation may suggest the possibility of an ureteroinguinal hernia. Preoperative diagnostic suspicion is essential.