OpenMed/multicare-articles huggingface dataset:
Case Report: Apremilast for Therapy-Resistant Pemphigus Vulgaris
Authors: Katharina Meier, Julia Holstein, Farzan Solimani, Jens Waschke, Kamran Ghoreschi
Journal: Front Immunol (2020)
Keywords: t follicular regulatory (tfr) cell, apremilast, autoimmunity, blistering disorders, pemphigus vulgaris (pv)
MeSH terms: Pemphigus / drug therapy, Phosphodiesterase 4 Inhibitors / therapeutic use, Thalidomide / analogs & derivatives, Case Reports, Research Support, Non-U.S. Gov't, Drug Resistance, Female, Humans, Middle Aged, Thalidomide / therapeutic use, Phosphodiesterase 4 Inhibitors, Thalidomide, apremilast

Background:
In pemphigus, elucidating the disease-causing immune mechanism and developing new therapeutic strategies are needed. In this context, the second messenger 3',5'-cyclic adenosine monophosphate (cAMP) is gaining attention. cAMP is important in hematological and auto-inflammatory disorders. A class of enzymes called phosphodiesterases (PDEs) control intracellular cAMP levels. In pemphigus, cAMP levels increase following IgG binding to Dsg3. This appears to be a mechanism to preserve epithelial integrity.
Objectives:
To determine whether apremilast, an inhibitor of the PDE4 normally used in psoriasis, may be of benefit in the blistering skin disorder pemphigus.
Methods:
Here we report of a 62 years old patient with chronic debilitating and recalcitrant pemphigus not responding to several previous treatments, who received treatment with apremilast over a period of 32 weeks. Desmoglein autoantibody levels were assessed by Enzyme-linked Immunosorbent Assay (ELISA), whereas disease severity and quality of life were assessed by the Autoimmune Bullous Skin Disorder Intensity Score (ABSIS). In an attempt to explain the effects of apremilast in pemphigus, peripheral blood mononuclear cells (PBMCs) were analyzed for the duration of treatment by flow cytometry for the distribution of specialized T cell subsets. The frequencies of circulating T helper (Th) 1, Th2, Th17, Th17.1 and T follicular helper (Tfh) 1, Tfh2, Tfh17, and Tfh17.1 were analyzed by CCR6, CXCR3, and CXCR5 expression of CD4+ T cells. Further, based on the different expressions of CXCR5, CD127, and CD25, we analyzed the T regulatory (Treg) and T follicular regulatory (Tfreg) compartment.
Results:
In response to apremilast treatment, Dsg-specific autoantibody titers decreased, blistering ceased and lesions healed, showing a long-lasting effect. While the frequencies of most of the Th and Tfh cell subsets remained unchanged, we observed a continuous increase in Treg and Tfreg cell levels.
Conclusion:
Our findings are encouraging and warrant extension of the beneficial effect of PDE4 inhibition on a larger cohort of pemphigus patients.
A Case of Leukocytoclastic Vasculitis and Associated Conjunctivitis Following MMR Vaccine Administration
Authors: Hana I Nazir, Aubrey A Hess, Abha Soni, Kathryn A Potter
Journal: Case Rep Dermatol Med (2023)
MeSH terms: Case Reports

Introduction:
Leukocytoclastic vasculitis (LCV) is a small-vessel vasculitis characterized by immune complex deposition in the walls of dermal capillaries and venules. With the COVID-19 pandemic, more adults are receiving the MMR vaccine, as it may enhance innate immune responses against COVID-19 infection. Here, we report a case of LCV and associated conjunctivitis arising in a patient secondary to immunization with the MMR vaccine.
Methods and results:
A 78-year-old man on lenalidomide therapy for multiple myeloma presented to an outpatient dermatology clinic with a two-day history of a painful rash consisting of scattered pink dermal papules on bilateral dorsal and palmar hands, as well as bilateral conjunctival erythema. Histopathological findings-which revealed an inflammatory infiltrate with papillary dermal edema, as well as nuclear dust within small blood vessel walls with extravasation of red blood cells-were most consistent with LCV. It then became known that the patient had received an MMR vaccine two weeks prior to the onset of the rash. The rash was resolved with the use of topical clobetasol ointment, and the patient's eyes were cleared as well.
Conclusions:
This is an interesting presentation of MMR vaccine-related LCV occurring only on the upper extremities with associated conjunctivitis. Had the patient's oncologist not known about the recent vaccination, it is likely that the treatment of his multiple myeloma would have been postponed or altered, as lenalidomide can also cause LCV.
Syndrome of inappropriate anti-diuretic hormone in non-small cell lung carcinoma: a case report
Authors: Philip McDonald, Colleen Lane, Graciela E Rojas, Ashiq Masood
Journal: Ecancermedicalscience (2012)
MeSH terms: Case Reports

Paraneoplastic syndrome (PNS) related to lung cancer is very common. However, the syndrome of inappropriate anti-diuretic hormone secretion (SIADH) is rare in non-small cell lung cancer (NSCLC). We are reporting the case of a 58-year-old female presenting with dyspnea, cough, weight loss, digital clubbing, and one week of haemoptysis. CT showed a mediastinal mass completely encasing her superior vena cava, causing significant narrowing of the trachea and right mainstem bronchus. Bronchoscopy and biopsy identified a non-resectable NSCLC. Palliative radiation therapy was initiated. The day after her first radiation treatment, the patient developed asymptomatic hyponatremia, confirmed to be SIADH by laboratory evaluation. NSCLC-associated SIADH has been reported only thrice over the past two decades and never following radiation therapy with clinical improvement. The patient was discharged home on fluid restriction after her respiratory status improved to continue outpatient radiation and chemotherapy. SIADH in the setting of NSCLC is discussed.
A missed diagnosis or a masquerading disease: back to the basics
Authors: Rejani Lalitha, Christopher Kenneth Opio
Journal: Pan Afr Med J (2013)
Keywords: pre-eclampsia, blood pressures, magnesium sulphate, pheochromocytoma
MeSH terms: Adrenal Gland Neoplasms / diagnosis, Hypertension / diagnosis, Pheochromocytoma / diagnosis, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S., Adrenal Gland Neoplasms / complications, Adrenal Gland Neoplasms / surgery, Antihypertensive Agents / therapeutic use, Blood Pressure / drug effects, Diagnostic Errors, Female, Humans, Hypertension / drug therapy, Hypertension / etiology, Pheochromocytoma / complications, Pheochromocytoma / surgery, Pre-Eclampsia / diagnosis, Pregnancy, Pregnancy Complications, Cardiovascular / diagnosis, Pregnancy Complications, Cardiovascular / etiology, Pregnancy Complications, Neoplastic / diagnosis, Pregnancy Complications, Neoplastic / pathology, Pregnancy Complications, Neoplastic / surgery, Pregnancy Outcome, Tomography, X-Ray Computed, Uganda, Young Adult, Antihypertensive Agents

A 23-year-old gravid Ugandan female at 26 weeks was admitted to the maternity ward with sweats, abdominal pain, feeling of apprehension and palpitations. A diagnosis of pre-eclampsia was made and treatment with magnesium sulphate initiated. She was later transferred to intensive care unit for monitoring and control of blood pressure. Due to her labile blood pressures despite intravenous hydralazine and metoprolol, the pregnancy was terminated. However, she continued to have labile blood pressures. Better control of blood pressure was achieved on oral prazocin and nifedipine. The patient was then transferred to floor and discharged home a few days later. An abdominal computed-tomography scan showed a solid lobulated right paravertebral mass superio-medial to the right kidney. An open adrenelectomy was performed and antihypertensives discontinued. Histopathology revealed a benign pheochromocytoma. The mother had good post-operative outcome; however the premature baby died 2 days later in the special care unit.
Ipsilateral Limb Extension of Referred Trigeminal Facial Pain due to Greater Occipital Nerve Entrapment: A Case Report
Authors: Byung-Chul Son, Changik Lee
Journal: Case Rep Neurol Med (2022)
MeSH terms: Case Reports

We report a very rare case of referred pain associated with entrapment of the greater occipital nerve (GON) occurring not only in the ipsilateral hemiface but also in the ipsilateral limb. There is an extensive convergence of cutaneous, tooth pulp, visceral, neck, and muscle afferents onto nociceptive and nonnociceptive neurons in the trigeminal nucleus caudalis (medullary dorsal horn). In addition, nociceptive input from trigeminal, meningeal afferents projects into trigeminal nucleus caudalis and dorsal horn of C1 and C2. Together, they form a functional unit, the trigeminocervical complex (TCC). The nociceptive inflow from suboccipital and high cervical structures is mediated with small-diameter afferent fibers in the upper cervical roots terminating in the dorsal horn of the cervical cord extending from the C2 segment up to the medullary dorsal horn. The major afferent contribution is mediated by the spinal root C2 that is peripherally represented by the greater occipital nerve (GON). Convergence of afferent signals from the trigeminal nerve and the GON onto the TCC is regarded as an anatomical basis of pain referral in craniofacial pain and primary headache syndrome. Ipsilateral limb pain occurs long before the onset of the referred facial pain. The subsequent severe hemifacial pain suggested GON entrapment. The occipital nerve block provided temporary relief from facial and extremity pain. Imaging studies found a benign osteoma in the ipsilateral suboccipital bone, but no direct contact with GON was identified. During GON decompression, severe entrapment of the GON was observed by the tendinous aponeurotic edge of the trapezius muscle, but the osteoma had no contact with the nerve. Following GON decompression, the referred trigeminal and extremity pain completely disappeared. The pain referral from GON entrapment seems to be attributed to the sensitization and hypersensitivity of the trigeminocervical complex (TCC). The clinical manifestations of TCC hypersensitivity induced by chronic entrapment of GONs are diverse when considering the occurrence of extremity pain as well as facial pain.
Breast tuberculosis: a report of five cases
Authors: Boubacar Efared, Ibrahim S Sidibé, Fatimazahra Erregad, Nawal Hammas, Laila Chbani, Hinde El Fatemi
Journal: Trop Med Health (2017)
Keywords: breast, caseous necrosis, endemic, morocco, tuberculosis
MeSH terms: Case Reports

Background:
Breast tuberculosis is a rare form of extrapulmonary tuberculosis with clinical and radiological misleading presentations. We report herein a retrospective study of clinicopathological features of five cases of breast tuberculosis collected at Hassan II University Hospital of Fès, Morocco, a country where tuberculosis is endemic.
Case presentation:
The mean age was 40.6 years (range of 21-59 years). Two patients presented with abscessed lesions, and three cases presented with breast lumps with a suspicion of malignancy on imaging techniques. The diagnosis has been made on histological specimens (3 biopsy specimens, 1 excisional biopsy, and 1 lumpectomy). All patients have been successfully treated after the completion of the standard antibiotherapy.
Conclusions:
Our current study shows that the breast is rarely affected by tuberculosis even in endemic area. The clinical presentation is often misleading, and the histopathological analysis constitutes a valuable diagnostic tool. The prognosis of breast tuberculosis is good after treatment by a standard antibiotherapy.
Successful Outcome of Patellectomy Plus Chemotherapy for Primary Bone Lymphoma of the Patella: A Case Report and Literature Review
Authors: Xin Cao, Hui-Jin Chen
Journal: Front Oncol (2021)
Keywords: chemotherapy, lymphoma, patella, patellectomy, primary bone lymphoma
MeSH terms: Case Reports

Primary bone lymphoma (PBL) is a rare but distinct clinicopathological disease, usually occurring in the pelvis, spine, and ribs. To date, only a few cases have been reported as beginning in the patella. Due to the lack of clinical evidence, the optimal treatment strategy has not been established. Here, we report a case that presented unexplained right knee pain. The case was diagnosed with the non-germinal center, diffuse large B cell lymphoma in the patella by imaging examinations and bone biopsy. Then, the patient received a patellectomy and eight cycles of R-CHOP chemotherapy. After treatment, the patient achieved a favorable prognosis and satisfactory functional recovery.
Mycobacterium fortuitum osteomyelitis of the cuboid bone treated with CERAMENT G and V: a case report
Authors: Kilian Fraga, Miriam Maireles, Marc Jordan, Laura Soldevila, Oscar Murillo
Journal: J Bone Jt Infect (2022)
MeSH terms: Case Reports

We present the rare case of a 61-year-old female with Mycobacterium fortuitum osteomyelitis of the cuboid bone following penetrating plantar trauma. The patient underwent a single-stage surgery for the condition, including lesion debridement and bone defect filling with absorbable, gentamicin-/vancomycin-loaded, calcium sulfate-hydroxyapatite biocomposites, that resolved favorably 5 months after intervention.
Mucinous Colorectal Carcinoma in a 17-Year-Old Male: A Diagnosis with Low Clinical Index of Suspicion
Authors: James Joseph Yahaya, Edward Ketson Msokwa, Alex Mremi
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Colorectal carcinoma (CRC) is commonly found in adults. CRC in the pediatric population is extremely rare. Usually, CRC is diagnosed in children at advanced stage due to a low clinical index of suspicion. Mucinous type of CRC and its signet ring variant are the most common histological types which carry very poor clinical outcomes. This paper reports a 17-year-old male who presented with mild pallor and a 3-month history of abdominal pain accompanied with a mass on the left lower quadrant, and it was then confirmed histologically to be mucinous CRC of signet ring variant. This paper will help to raise awareness among the physicians and pediatricians in including CRC in the preliminary workouts for the purpose of shortening the delay for diagnosis which in turn would compromise the prognosis of the patients.
Personalized prescription of tyrosine kinase inhibitors in unresectable metastatic cholangiocarcinoma
Authors: Elena V Poddubskaya, Madina P Baranova, Daria O Allina, Philipp Y Smirnov, Eugene A Albert, Alexey P Kirilchev, Alexey A Aleshin, Marina I Sekacheva, Maria V Suntsova
Journal: Exp Hematol Oncol (2018)
MeSH terms: Case Reports

Background:
Cholangiocarcinoma is an aggressive tumor with poor prognosis. Most of the cases are not available for surgery at the stage of the diagnosis and the best clinical practice chemotherapy results in about 12-month median survival. Several tyrosine kinase inhibitors (TKIs) are currently under investigation as an alternative treatment option for cholangiocarcinoma. Thus, the report of personalized selection of effective inhibitor and case outcome are of clinical interest.
Case presentation:
Here we report a case of aggressive metastatic cholangiocarcinoma (MCC) in 72-year-old man, sequentially treated with two targeted chemotherapies. Initially disease quickly progressed during best clinical practice care (gemcitabine in combination with cisplatin or capecitabine), which was accompanied by significant decrease of life quality. Monotherapy with TKI sorafenib was prescribed to the patient, which resulted in stabilization of tumor growth and elimination of pain. The choice of the inhibitor was made based on high-throughput screening of gene expression in the patient's tumor biopsy, utilized by Oncobox platform to build a personalized rating of potentially effective target therapies. However, time to progression after start of sorafenib administration did not exceed 6 months and the regimen was changed to monotherapy with Pazopanib, another TKI predicted to be effective for this patient according to the same molecular test. It resulted in disease progression according to RECIST with simultaneous elimination of sorafenib side effects such as rash and hand-foot syndrome. After 2 years from the diagnosis of MCC the patient was alive and physically active, which is substantially longer than median survival for standard therapy.
Conclusion:
This case evidences that sequential personalized prescription of different TKIs may show promising efficacy in terms of survival and quality of life in MCC.
An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: A case report and literature review
Authors: Xin Zhang, Juan Gao, Chunling Chi, Zhenzhen Zhao, Piu Chan, Jinghong Ma
Journal: Front Neurol (2023)
Keywords: anxa11, amyotrophic lateral sclerosis, genotype, phenotype, progressive supranuclear palsy
MeSH terms: Case Reports

Background:

ANXA11 mutations were first reported to be associated with amyotrophic lateral sclerosis (ALS) in 2017. Several studies have investigated the prevalence of ANXA11 mutations in different populations, while less is known about the spectrum of phenotypes and the genotype-phenotype correlation with this gene mutation.
Case presentation:
Here, we report a 74-year-old man who was initially diagnosed with progressive supranuclear palsy (PSP) because of repeated falls, slight upward gaze palsy, and mild cognitive dysfunction at the onset. He finally turned out to be ALS with more and more prominent limb weakness and atrophy, together with the evidence of chronic neurogenic change and ongoing denervation on electromyography. Brain magnetic resonance imaging showed extensive cortical atrophy. A missense mutation c.119A > G (p.D40G) on the ANXA11 gene was identified using whole-exome sequencing, which confirmed the diagnosis of ALS. We performed a systematic review of the literature about ALS-relevant cases with ANXA11 mutations and identified 68 affected subjects and 29 variants with the ANXA11 gene. We summarized the phenotypes of ANXA11 mutations and the clinical characteristics of nine patients harboring the ANXA11 p.D40G variant including our case.
Conclusions:
The phenotype of ANXA11-related cases is heterogeneous, and most cases showed typical ALS, while some could also have the characteristics of frontotemporal dementia (FTD) and PSP, even inclusion body myopathies (hIBM) occurred in familial ALS (FALS). Our patient presented with ALS with a co-morbid PSP-like symptom (ALS-PSP) phenotype, which has not been reported. Except for our patient, the remaining eight patients with the ANXA11 p.D40G variant presented with a classical ALS phenotype without cognitive impairment.
COVID-19 suspicion revealed to be fat embolism syndrome
Authors: Salim Mazouz, Ouissal Aissaoui, Mohamed Anass Fehdi, Afak Nsiri, Rachid AlHarrar
Journal: Pan Afr Med J (2020)
Keywords: covid-19, fat embolism syndrome, acute respiratory distress
MeSH terms: Betacoronavirus, Coronavirus Infections / diagnostic imaging, Embolism, Fat / diagnostic imaging, Pneumonia, Viral / diagnostic imaging, Tibial Fractures / complications, Case Reports, Adult, COVID-19, Diagnosis, Differential, Embolism, Fat / etiology, Humans, Male, Pandemics, Postoperative Complications / diagnostic imaging, SARS-CoV-2, Tibial Fractures / surgery, Tomography, X-Ray Computed

The novel coronavirus, named SARS-CoV-2, responsible of the COVID-19 is now causing a pandemic. Detecting all possible cases and eliminating differential diagnoses in front of any acute respiratory distress has become a daily challenge for doctors around the world. We believe that non-COVID patients are the hidden victims of the actual health problematic. We report from this manuscript the case of a patient with fat embolism syndrome that has been suspected as COVID-19.
Case Report: An Unusual First Manifestation of a Pheochromocytoma
Authors: Qiangrong Zhai, Ci Tian, Zhengzhao Deng, Congrong Liu, Qingbian Ma
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: case report, diffuse alveolar hemorrhage, first manifestation, hemoptysis, pheochromocytoma
MeSH terms: Adrenal Gland Neoplasms / diagnosis, Hemoptysis / diagnosis, Pheochromocytoma / diagnosis, Case Reports, Adrenal Gland Neoplasms / complications, Adult, Diagnosis, Differential, Hemoptysis / etiology, Humans, Lung / diagnostic imaging, Lung / pathology, Male, Pheochromocytoma / complications, Tomography, X-Ray Computed

We present a 30-year old male presented with hemoptysis as a first manifestation and pulmonary CT scan characteristic of diffuse alveolar hemorrhage. Further abdominal examination discovered a left adrenal mass. Elevated catecholamine and metanephrine levels and subsequent adrenalectomy confirmed the diagnosis of pheochromocytoma. Symptoms of pheochromocytoma are highly variable, which could potentially delay the diagnosis. With careful investigation, emergency medicine practitioners need to be aware of the cunning and changeful manifestations in pheochromocytoma.
Fulminant Leptospirosis (Weil's disease) in an urban setting as an overlooked cause of multiorgan failure: a case report
Authors: Elias Maroun, Anurag Kushawaha, Elie El-Charabaty, Neville Mobarakai, Suzanne El-Sayegh
Journal: J Med Case Rep (2011)

Introduction:
Leptospirosis has recently come to international attention as a globally important re-emerging infectious disease. Our case is unusual given the season, location and setting in which leptospirosis occurred. According to the New York City Board of Health, there were only two other cases of leptospirosis in New York City in the year that our patient was diagnosed.
Case presentation:
A 49-year-old healthy Chinese man presented to our hospital with sepsis and multiorgan failure. The patient did not respond to antibiotics and his multiorgan failure worsened. His workup did not show any significant findings except for a positive nasopharyngeal swab result for influenza A. Later the patient developed hemoptysis with evidence of bilateral infiltrates on radiography. His status mildly improved after he was started on steroids. Eventually, a microagglutination test confirmed the presence of antibodies against Leptospira icterohaemorrhagiae. The patient subsequently recovered after a course of intravenous antibiotics.
Conclusion:
The case of fulminant leptospirosis presented here should serve to alert health care providers and the general public to the clinical importance of this severe, sometimes fatal, disease. Leptospirosis should be considered early in the diagnosis of any patient with acute, non-specific febrile illness with multiorgan system involvement or high fever in a returning traveler. In addition, not only should it be considered in tropical and rural areas between late summer to early fall, but also in any location or time if the risk factors are present.
An Intact Dopamine Sensitivity in the Brain: A Necessity to Recover Hyperprolactinemia and Galactorrhea in a Female Hemodialysis Patient?
Authors: Eva Philipse, Ester Philipse, Theodorus Twickler, Amaryllis Van Craenenbroeck, Marie Madeleine Couttenye, Luc Van Gaal
Journal: Case Rep Nephrol (2017)
MeSH terms: Case Reports

A female hemodialysis patient with galactorrhea due to hyperprolactinemia was treated with different dialysis modalities to assess the effect on prolactin levels. A single session of both high-flux hemodialysis and hemodiafiltration resulted in decreased prolactin levels (16,6% and 77,2%, resp.). However, baseline prolactin levels measured immediately before the next dialysis session did not change markedly. After cabergoline treatment was started, prolactin levels normalized and galactorrhea disappeared. Thus, dopaminergic inhibition of prolactin secretion might be reduced in patients with end-stage renal disease. This dopaminergic resistance could be an important mechanism of hyperprolactinemia in hemodialysis patients and its subsequent treatment strategies.