Herlyn Werner Wunderlich Syndrome with Hydrocolpos: A Case Report.

ABSTRACT: Herlyn-Werner-Wunderlich Syndrome is a very rare congenital malformation of the urogenital tract involving both the Mullerian and Wolffian ducts characterized by the triad uterine diadelphys, obstructed vagina, and unilateral renal agenesis. If not diagnosed on time it may progress to adverse gynecological complications making timely diagnosis and treatment crucial. We hereby present a 14-year girl with right flank pain diagnosed as Herlyn-Werner-Wunderlich Syndrome by ultrasound scan which was managed surgically with drainage of hydrocolpos and marsupialization of vaginal septum. On two weeks follow up patient had symptomatic improvement with no any complications.

Bone cement implantation syndrome: the role of echocardiography and multidisciplinarity.

Bone cement implantation syndrome (BCIS) is a potentially serious complication after joint replacement surgery, resulting from bone marrow debris and cement embolisation, culminating in pulmonary and cardiovascular collapse. Echocardiography aids in diagnosis and management. We present a woman in her 80s with grade II BCIS. CT angiogram was inconclusive, but echocardiography revealed hyperechogenic material and right ventricular dysfunction, confirming the diagnosis. She received cardiovascular and respiratory support in a level II intensive care unit, showing full recovery of the right ventricle function when it was later reassessed. This potentially fatal condition is successfully managed if recognised early with adequate supportive care. Echocardiography might guide the diagnosis, consolidating supportive measures.

[Therapeutic and diagnostic complex in intestinal failure syndrome in patients with closed abdominal trauma]. / Lechebno-diagnosticheskii kompleks pri sindrome kishechnoi nedostatochnosti u patsientov s zakrytoi travmoi zhivota.

Currently, severe combined abdominal trauma ranks third among all causes of mortality In Russia, second only to cardiovascular and oncologic diseases. In the period from 2019 to 2020 in our country, a slight decrease in traumatism is noted due to a decrease in the number of traffic accidents as the main cause of combined and multiple trauma. The number of abdominal injuries from the total number of injuries In Russian regions ranges from 1.5 to 36.5% and is accompanied by a high level of disability (25-80% in combined trauma and 5-8% in isolated trauma). Despite modern medical advances, lethality in combined trauma of abdominal organs varies from 10.7 to 69.7%, with closed abdominal trauma accounting for up to 6% of fatal outcomes. OBJECTIVE: Improving treatment outcomes in patients with closed abdominal trauma through comprehensive diagnosis of SCN and optimization of enteral therapy in patients with closed abdominal trauma. MATERIAL AND METHODS: The study included 40 patients (29 (72.5%) men and 11 (27.5%) women), who underwent examination and treatment at the State Budgetary Institution "Research Institute of SP. Im. N.V. Sklifosovsky Research Institute of St. Petersburg State Medical Center with the diagnosis: Closed abdominal trauma. The age of the patients varied from 25 to 81 years (Mean age was 49.6±13.1). To evaluate the effectiveness of intensive therapy, the patients were divided into 2 groups: the comparison group (n=26) included patients who were treated with complex conservative therapy. Patients of the main group (n=14) conservative therapy was supplemented with the use of ER to restore the functional activity of the intestine under the control of ultrasound and assessment of the degree of intra-abdominal hypertension, as well as with Intestamine to stimulate the intestinal trauma. RESULTS: In the course of the study it was found that, as a result of complex enteral therapy in the patients of the main group, starting from the 7th day of stay in the ORIT, positive dynamics was observed, consisting in a statistically significant decrease in the levels of lactate, ALT, AST, LDH, and CRP. By the 14th day there was also a statistically significant decrease in leukocyte and PCT levels. The lethality in the main group amounted to 7.2%, n=1. At the same time, in patients of the comparison group only by the 7th day there was a decrease in concentration of CRP (p=0.065), by the 10th day - ALT (<0.001) and by the 14th day there was a decrease in leukocytes level (p=0.038). Lethality in this group amounted to 23.1%, n=6. CONCLUSION: Timely initiation of pathogenetic enteral therapy contributes to faster normalization of clinical and laboratory parameters, protection of intestinal barrier function, prevention of complications associated with bacterial translocation and bacterial overgrowth syndrome, increase in immunoresistance of the organism.

An autopsy case of an adult woman with Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHAD(NET)) syndrome developing nonalcoholic steatohepatitis and hepatocellular carcinoma: A case report.

BACKGROUND: Nonalcoholic steatohepatitis (NASH) is an important etiology of hepatocellular carcinoma (HCC), and there is no established therapy for this syndrome. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD(NET)) is an extremely rare syndrome considered to be life-threatening, with death occurring around 10 years of age. We present the oldest known autopsy case of this syndrome that developed HCC. This case provided important information on not only improving the course of this syndrome, but also understanding the natural history and therapeutic modalities of NASH and HCC. METHODS: The patient was diagnosed with ROHHAD(NET) syndrome in childhood, and liver cirrhosis due to NASH was diagnosed at age 17. HCC was detected at age 20, and embolization and irradiation were performed. At age 21, she died from accidental acute pancreatitis and subsequent liver failure and pulmonary hemorrhage. RESULTS: Rapid onset of obesity, hypoventilation, and hypothalamic disturbance appeared in childhood and was diagnosed as this syndrome. At age 17, liver cirrhosis due to NASH was diagnosed by liver biopsy, and at age 20, HCC was diagnosed by imaging. Transarterial chemoembolization and irradiation were performed, and the HCC was well controlled for a year. CONCLUSION: At age 21, she died from accidental acute pancreatitis, subsequent liver failure and pulmonary hemorrhage. Autopsy revealed that the HCC was mostly necrotized. This case was valuable not only for other ROHHAD(NET) syndrome cases, but also in improving our understanding of the natural history of NASH and HCC.

Clinical value of transperineal ultrasound in evaluating the diagnostic grade of rectocele in Chinese women with obstructed defecation syndrome: An observational study.

We aimed to evaluate the effectiveness of transperineal ultrasound (TPUS) in diagnosing rectocele, rectal intussusception (RI), enterocele, perineal descent (PD), and cystocele in Chinese women with obstructed defecation syndrome (ODS), and to determine the grading of rectocele via TPUS. Between January 2019 and December 2021, 107 obstructed defecation syndrome patients, with a mean age of 49.76 years, received TPUS and defecation proctography (DEP). Both methods were used to diagnose anorectal angle, rectocele, RI, enterocele, and PD, while cystocele and uterine prolapse were diagnosed only through TPUS. Agreement between DEP and TPUS diagnostic results was compared using Cohen kappa statistics. Seventy-six rectoceles were reported following DEP and 72 after TPUS. DEP detected 7 enteroceles, 6 of which were diagnosed simultaneously by TPUS. 43 patients presented dyssynergic defecation (DD) upon DEP, while 51 upon TPUS. DEP and TPUS detected PD in 13 and 11 patients respectively, and RI in 82 and 73, respectively. Rectocele (kappa = 0.738), RI (kappa = 0.711), DD (kappa = 0.774), enterocele (kappa = 0.847), and PD (kappa = 0.625) were obtained by Cohen kappa statistics, which indicated a good agreement between DEP and TPUS. The cutoff values for the diagnosis of moderate and severe rectocele with TPUS were 12.05 mm (AUC: 0.941) and 18.50 mm (AUC: 0.977), respectively. The DEP-determined and TPUS-determined anorectal angles were significantly correlated in the resting and Valsalva states (P < .01). Compared with DEP, while maintaining good agreement in detecting rectocele, RI, DD, enterocele, and PD, TPUS is a repeatable and noninvasive alternative. Threshold values of 12.05 mm and 18.50 mm on TPUS may diagnose moderate and severe rectocele, respectively.

[TWO CASES OF α-GAL SYNDROME CAUSED BY INGESTION OF WILD BOAR MEAT].

α-Gal syndrome (AGS) is an allergic reaction to galactose-α-1,3-galactose (α-gal) found in the salivary glands of ticks, mammalian meat excluding primates, and some antibody preparations, such as cetuximab. We report two cases of AGS diagnosed after ingestion of wild boar meat. Patient 1, a male in his 70s, developed anaphylactic shock about 3 h after eating wild boar meat. He was transported to our acute and critical care center in Nagasaki University Hospital because he had difficulty in moving. Patient 2, a female in her 60s, developed a skin rash about 2.5 h after ingesting wild boar meat. After visiting our department to investigate the cause of the disease, the sera of both patients were found to be positive for α-gal specific IgE antibody and were diagnosed with AGS caused by ingestion of wild boar meat. Reports of AGS diagnosed after ingestion of wild boar meat are rare in Japan. Compared with other prefectures, the consumption of wild boar meat in Nagasaki is relatively high in Japan. In the past 10 years, four cases of AGS were diagnosed at our department, half of which were caused by the ingestion of wild boar meat, the ratio is possibly higher than that in other prefectures in Japan.

Refractory singultus and area postrema syndrome as a presentation of neurocysticercosis.

Neurocysticercosis (NCC) is the most common parasitic infection of the central nervous system, caused by the pork tapeworm, Taenia solium Common presenting features are seizures, headaches and focal neurodeficits. The present report details the anecdote of a middle-aged Asian man, who presented with subacute onset of persistent nausea, vomiting and hiccups. Following unsuccessful trials with numerous prokinetic, antipsychotic, muscle relaxant and anticonvulsant medications, as well as an uneventful battery of gastrointestinal tests, he was referred for neurological evaluation. The constellation of symptoms was congruent with the diagnosis of area postrema syndrome. Although initial CT scan of brain was normal, MRI with contrast evaluation revealed a circumscribed, ring-enhancing lesion of the dorsal medulla oblongata, reminiscent of colloid vesicular stage of NCC. The patient was successfully treated with steroids and albendazole. The association of refractory singultus, nausea and vomiting and NCC is thus far, not reported in the literature.

Altitude-related features and prognosis in patients with reversible splenial lesion syndrome.

INTRODUCTION: RESLES (Reversible splenial lesion syndrome) can be observed secondary to various diseases, and intramyelinic edema may play a crucial role in the pathogenesis of SCC (Splenium of the corpus callosum). Some studies have suggested that hypoxic-ischaemic encephalopathy may constitute a risk factor for SCC lesions. However, the potential impact of high-altitude environments on SCC, especially during chronic exposure, remain obscure. METHODS: Our study included 19 patients who satisfied the diagnostic criteria of RESLES at high altitudes. Ten low-altitude patients with RESLES were included as controls. All participants received MRI (Magnetic resonance imaging) scans twice. Routine blood tests, liver, kidney and thyroid function, coagulation function, electrolytes and vitamins were detected during hospitalization and before discharge. In addition, the patients were followed up in May 2023. RESULTS: Hypoxic environments at high altitudes may increase the risk of RESLES. The two groups showed different clinical symptoms. High-altitude patients had significantly higher CRP levels than low-altitude patients. The lesion size in high-altitude patients showed a positive correlation with SaO2 levels. However, the patients at low altitudes had positive correlation trends between lesion size and several inflammatory markers (WBC, NEU and CRP). All patients had a benign prognosis that may not be affected by the use of prednisone acetate. CONCLUSIONS: Hypoxic environments at high altitudes may play a role in the aetiology of RESLES. Additionally, RESLES is a reversible disease and the administration of glucocorticoids may be dispensable for its treatment.

The risk of geriatric syndromes in older COVID-19 survivors among the nonvaccinated population: a real world retrospective cohort study.

BACKGROUND: We aimed to analyse the differences in the risk of geriatric syndromes between older adults with and without coronavirus disease 2019 (COVID-19). METHODS: We conducted a retrospective cohort study of patients from the US Collaborative Network in the TriNetX between January 1, 2020, and December 31, 2022. We included individuals aged older than 65 years with at least 2 health care visits who underwent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) polymerase chain reaction (PCR) tests during the study period. We excluded those with SARS-CoV-2 vaccination, diagnosis with neoplasm and geriatric syndromes before the index date, and death within 30 days after the index date. The index date was defined as the first date of the PCR test for SARS-CoV-2 during the study period. Hazard ratios (HRs) and 95% confidence intervals (CIs) for eight geriatric syndromes were estimated for propensity score-matched older adults with and without COVID-19. Subgroup analyses of sex and age were also performed. RESULTS: After propensity score matching, 315 826 patients were included (mean [standard deviation] age, 73.5 [6.4] years; 46.7% males and 51.7% females). The three greatest relative increases in the risk of geriatric syndromes in the COVID-19 cohort were cognitive impairment (HR: 3.13; 95% CI: 2.96-3.31), depressive disorder (HR: 2.72; 95% CI: 2.62-2.82) and pressure injury (HR: 2.52; 95% CI: 2.34-2.71). CONCLUSIONS: The risk of developing geriatric syndromes is much higher in the COVID-19 cohort. It is imperative that clinicians endeavour to prevent or minimise the development of these syndromes in the post-COVID-19 era.

Evaluating current acute aortic syndrome pathways: Collaborative Acute Aortic Syndrome Project (CAASP).

BACKGROUND: Diagnosis of acute aortic syndrome is challenging and associated with high perihospital mortality rates. The study aim was to evaluate current pathways and understand the chronology of acute aortic syndrome patient care. METHOD: Consecutive patients with acute aortic syndrome imaging diagnosis between 1 January 2018 and 1 June 2021 were identified using a predetermined search strategy and followed up for 6 months through retrospective case note review. The UK National Interventional Radiology Trainee Research and Vascular and Endovascular Research Network co-ordinated the study. RESULTS: From 15 UK sites, 620 patients were enrolled. The median age was 67 (range 25-98) years, 62.0% were male and 92.9% Caucasian. Type-A dissection (41.8%) was most common, followed by type-B (34.5%); 41.2% had complicated acute aortic syndrome. Mode of presentation included emergency ambulance (80.2%), self-presentation (16.2%), and primary care referral (3.6%). Time (median (i.q.r.)) to hospital presentation was 3.1 (1.8-8.6) h and decreased by sudden onset chest pain but increased with migratory pain or hypertension. Time from hospital presentation to imaging diagnosis was 3.2 (1.3-6.5) h and increased by family history of aortic disease and decreased by concurrent ischaemic limb. Time from diagnosis to treatment was 2 (1.0-4.3) h with interhospital transfer causing delay. Management included conservative (60.2%), open surgery (32.2%), endovascular (4.8%), hybrid (1.4%) and palliative (1.4%). Factors associated with a higher mortality rate at 30 days and 6 months were acute aortic syndrome type, complicated disease, no critical care admission and age more than 70 years (P < 0.05). CONCLUSIONS: This study presents a longitudinal data set linking time-based delays to diagnosis and treatment with clinical outcomes. It can be used to prioritize research strategies to streamline patient care.

Protracted febrile myalgia syndrome in children with familial Mediterranean fever - systematic review and a case report.

INTRODUCTION: Protracted febrile myalgia syndrome (PFMS) is a rare manifestation of familial Mediterranean fever (FMF), characterized by myalgia, fever and elevated inflammatory markers lasting several weeks. As the hallmark of FMF are short episodes of disease symptoms, the long duration of PFMS may lead to a delayed diagnosis and treatment. OBJECTIVES: 1. To perform a review of literature and rheumatology textbooks focused on clinical features and treatment of PFMS in children. 2. To present our own case. METHODS: All articles in Pub Med generated using the keywords "protracted febrile myalgia" and information on PFMS in seven rheumatology textbooks were collected. The systematic review was supplemented with our own case presentation. RESULTS: In total, 18 articles with 78 pediatric patients (including our own) were retrieved. More than half of the patients presented with PFMS as the first manifestation of FMF. All complained of myalgia, 65% of abdominal pain and 26% had a rash. Corticosteroids (CS) were effective in 77%. In all CS-refractory cases, anakinra was shown efficient. MRI was used in 5 patients and showed myositis in all of them. The scrutiny of seven rheumatology textbooks showed that PFMS presenting with myalgia was mentioned in six. Possible accompanying symptoms were described only once, the long duration of symptoms twice, the efficacy of corticosteroids three times and anakinra only once. The presented 6 year old patient manifested with fever, myalgia, abdominal pain and petechial rash lasting 6 weeks. She had undergone multiple diagnostic procedures before her parents mentioned a positive family history for FMF. The subsequent genetic testing confirmed a homozygosity for M694V pathogenic variant in the MEFV gene. CONCLUSION: The long duration of PFMS may be misleading to clinicians especially if PFMS occurs at manifestation of FMF. The fact that more than half of the reported patients experienced PFMS as the presenting symptom of FMF is one of the key findings of our study. Our case presentation demonstrates the importance of genetic testing early in suspected autoinflammatory diseases. Furthermore, MRI may be an important diagnostic tool showing myositis in PFMS.

Role of estradiol and C-reactive protein levels on genitourinary syndrome in menopausal women.

Menopause leads to decreased estradiol levels affecting tissue health and causing local inflammation in the genital organs and urinary tract. The rise of blood C-reactive protein (CRP) levels in menopausal women may indicate systemic inflammation associated with estradiol decline. The aim of this study was to determine the relationship between serum estradiol and CRP levels on genitourinary syndrome in menopausal women. A cross-sectional study was conducted among menopausal women who had not experienced menstruation for at least 12 consecutive months at Prof. dr. Chairuddin P. Lubis Hospital, Medan, Indonesia, in 2023. Estradiol and CRP levels were measured using enzyme-linked immunosorbent assay (ELISA) and the presence of genitourinary syndrome was assessed using the Menopause-Specific Quality of Life (MENQOL) questionnaire. The mean levels of estradiol and CRP were compared to menopausal women with and without genitourinary syndrome with the Mann-Whitney test. To assess the correlation between estradiol and CRP levels, and between their levels with the presence of genitourinary symptoms, the Spearman correlation test was used. The genitourinary syndrome was reported in 25% of the total included menopausal women. Our data indicated that the mean estradiol levels were not significantly different between menopausal women with and without genitourinary syndrome (9.13±2.47 pg/mL vs 18.96±31.23 pg/mL, p=0.881). The mean serum CRP level of menopausal women with genitourinary syndrome (9.72±6.30 mg/L) was higher than that of women without the syndrome (2.09±1.26 mg/L) with p<0.001. In addition, serum CRP level, not estradiol, was correlated with the symptom score of genitourinary syndrome. This study highlights that to identify and manage genitourinary syndrome, monitoring of CRP levels is essential in menopausal women.

Effect of skeletal muscle index on post-embolization syndrome of hepatocellular carcinoma after transarterial chemoembolization.

BACKGROUND: Skeletal muscle index (SMI) is a commonly used research method for evaluating muscle mass.However, its impact on post-embolization syndrome(PES) of patients with hepatocellular carcinoma (HCC) undergoing transarterial chemoembolization (TACE) is unclear.Our objective was to determine the effect of SMI on PES after TACE in patients with HCC. METHODS: We conducted a retrospective analysis of patients who received TACE treatment for HCC at our hospital from 2015 to 2020. The subjects were divided into two groups according to the presence or absence of PES after TACE, and their clinical characteristics were compared.SMI was measured and calculated by cross-sectionally at the level of the third lumbar vertebra based on computed tomography (CT). According to the cutoff value, the patients were classified into either low or high SMI group.Potential risk factors for PES were assessed using univariate and multivariable Cox proportional risk models. RESULTS: A total of 110 people were included in this study, from which including 82 patients experienced PES. Serum albumin was significantly lower in the PES group compared to the non-PES group.The frequency of HCC with a maximum diameter > 3 cm and low SMI in the PES group was significantly higher than in patients without PES. Cox multivariate analysis identified that the maximum diameter of HCC > 3 cm and low SMI were independent predictors of PES after TACE. CONCLUSIONS: Low SMI is an independent predictor of PES in HCC patients after TACE treatment, making preoperative CT assessment of skeletal muscle mass is a simple and effective tool for predicting PES.

Refractory Iron-Deficiency Anemia and Vascular Malformation Concomitant with Aortic Stenosis: Heyde Syndrome.

BACKGROUND Heyde syndrome is characterized by anemia due to angiodysplasia, aortic valve stenosis, and acquired von Willebrand syndrome. However, the awareness regarding Heyde syndrome in clinical practice is low. We report the case of an older woman with severe refractory iron-deficiency anemia and severe aortic stenosis who was diagnosed with Heyde syndrome. CASE REPORT A 70-year-old woman who had been experiencing exertional dyspnea for 3 months prior to presentation was diagnosed with iron-deficiency anemia, with a hemoglobin level of 69 g/L. She did not experience any episodes of bleeding, such as nosebleeds, gum bleeding, abnormal bleeding, or melena. Upper and lower gastrointestinal endoscopy revealed no evidence of bleeding, and oral iron supplementation failed to improve the anemia. Auscultation of the chest identified an ejection systolic murmur. Chest and abdominal computed tomography showed no significant lesions or active bleeding. Capsule endoscopy of the small intestine revealed capillary dilation. Echocardiography detected severe aortic valve stenosis. Blood test results revealed a deficiency in large von Willebrand factor multimers. Therefore, Heyde syndrome was diagnosed. Aortic valve replacement surgery was performed, which resulted in an improvement in anemia and the associated symptoms. CONCLUSIONS In cases of unexplained and treatment-resistant iron-deficiency anemia, especially if careful auscultation detects aortic stenosis, Heyde syndrome should be considered a differential diagnosis. Furthermore, screening for angiodysplasia in the gastrointestinal tract and prompt diagnosis through measurement of large von Willebrand factor multimers are imperative when investigating potential sources of bleeding.

Study on correlation between Chinese medicine syndromes in stroke and neurological deficits during recovery phase: Perspective.

Stroke is a leading cause of long-term disability and mortality worldwide, necessitating effective rehabilitation strategies for successful recovery. Traditional Chinese medicine (TCM) has gained recognition as a complementary and alternative approach in stroke rehabilitation, owing to its unique syndromes that offer valuable insights for personalized treatment plans. This study aims to elucidate the correlation between TCM syndromes observed during the recovery phase of stroke and the associated neurological deficits. Syndromes such as Blood stasis, Phlegm-dampness, Qi deficiency, and Yin deficiency were systematically examined, while standardized neurological assessments, encompassing motor function, sensory perception, and cognitive abilities, were employed to evaluate the extent of neurological impairment. Rigorous statistical analyses were conducted to discern potential correlations between TCM syndromes and the severity of neurological deficits. The results revealed statistically significant positive associations between certain TCM syndromes, particularly Blood stasis and Phlegm-dampness, and heightened neurological deficits during the recovery phase post-stroke. These findings suggest that these syndromes may serve as indicators of more severe brain injury post-stroke, thereby guiding the development of tailored rehabilitation strategies. By establishing robust connections between TCM syndromes and neurological deficits, this study contributes to advancing our understanding of stroke recovery through an integrated approach that incorporates TCM principles. Moreover, it underscores the potential benefits of integrating TCM into conventional rehabilitation protocols, offering valuable insights for healthcare professionals and potentially improving patient outcomes.

Successful treatments of idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome-related macular edema and exudation by intravitreal aflibercept injection in a senile patient: A case report.

RATIONALE: The prevalence of idiopathic retinitis, vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome is <1/1,000,000, and it tends to occur in young women. Panretinal photocoagulation, focal laser photocoagulation, peripheral cryopexy, vitrectomy, and corticosteroid therapy are the traditional treatments. We reported a case of a senile patient with IRVAN syndrome who presented with severe exudation in both eyes and macular edema in the left eye, successfully treated by serial intravitreal aflibercept injections. PATIENT CONCERNS: A 77-year-old Taiwanese woman complained of progressive blurred vision in the left eye and ocular examinations revealed a visual acuity of 20/125 in the left eye. DIAGNOSIS: Indirect fundoscopy and fluorescein angiography showed bilateral multiple aneurysms, vasculitis, optic nerve staining, and neovascularizations. In addition, optical coherence tomography demonstrated macular edema with subretinal fluid and exudations in the left eye. INTERVENTIONS: Monthly intravitreal injections of antivascular endothelial growth factor with aflibercept 2.0 mg were administered in the left eye. OUTCOMES: The visual acuity in the left eye improved to 20/50 after 18 months of treatment. Macular edema and subretinal fluid regressed. Furthermore, vessel leakage and optic disc staining also improved. LESSONS: This case is the first to demonstrate successful treatment of IRVAN syndrome-related central macular edema and exudations, in the absence of neovascularization, using a series of intravitreal aflibercept injections as monotherapy.

Vanishing lung syndrome a rare cause of dwindling of lungs in children with pulmonary tuberculosis.

Vanishing lung syndrome (VLS) or idiopathic giant bullous disease is a rare condition characterized by giant emphysematous bullae, classically presenting as a slowly enlarging bulla that compresses normal lung parenchyma and causes mediastinal shift, leading to increasing dyspnea and reduced exercise tolerance. Intermittent sudden worsening of symptoms may be seen because of secondary pneumothorax due to rupture of these bullae. Here we present three cases of vanishing lung syndrome in children due to tuberculosis (TB). Reports on VLS due to TB are bare minimum. In contrast to most of the published case reports, our cases had a moderate to rapid progression, bilateral extensive bullae and isoniazid which has been traditionally thought to be the causative factor was not used in one of our patients. All three are female patients arising new horizons of research regarding whether there is any sex predominance.

The Histopathology of Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome: Report of 12 Skin Biopsies From 6 Patients.

ABSTRACT: We present the histopathology of 12 skin biopsies from 6 patients with vacuoles, enzyme E1, X-linked, autoinflammatory, somatic syndrome and review the literature. The age of these 6 men ranges from 62 to 83 years (median of 70 years). UBA1 mutation was documented in all 6 patients. Multiple organ systems were involved with constitutional symptoms noted in 4 of 6 patients (67%), cutaneous involvement in 6 of 6 patients (100%), hematologic abnormalities in 6 of 6 patients (100%), pulmonary involvement in 4 of 6 patients (67%), musculoskeletal abnormalities in 3 of 6 patients (50%), vascular thrombosis in 2 of 6 patients (33%), ocular involvement in 2 of 6 patients (33%), and gastrointestinal involvement in 5 of 6 patients (83%). Of the 6 presented patients, neutrophilic dermatosis was seen in 3 biopsies, histiocytoid neutrophilic dermatosis in 1 biopsy, neutrophilic dermatosis with vasculitis in 1 biopsy, neutrophilic and granulomatous dermatitis in 2 biopsies, septal panniculitis consistent with erythema nodosum in 2 biopsies, and nonspecific patterns in 3 biopsies. In summary, neutrophilic dermatosis, small-vessel vasculitis, and panniculitis are frequent histopathologic patterns noted in decreasing frequency in skin biopsies of the patients with vacuoles, enzyme E1, X-linked, autoinflammatory, somatic syndrome. However, the histopathologic findings can be diverse, nonspecific in some instances, and varied among different biopsies obtained from the same patient.