High Clinical Awareness Research Articles

Glaucoma in pregnant women: features of treatment

This review provides information on the features, incidence, pathogenetic mechanism, possibilities of conservative, laser and surgical treatment of glaucoma in pregnant women. The purpose of this literature review is to study the features of managing patients with glaucoma during pregnancy. Glaucoma is a large group of eye diseases characterized by a gradual development of visual impairments and atrophy of the optic nerve. The pathology is most common among the population over 40 years old, but due to the advancement of reproductive technologies, the availability of diagnostic methods, as well as high clinical awareness, the frequency of ophthalmologists managing glaucoma in pregnant women increases. Elevated intraocular pressure in pregnant women is becoming more common and, therefore, is an urgent problem. There is a trend towards an increase in the number of pregnant women who experienced elevated intraocular pressure for the first time. Previously identified pathology in childhood or secondary glaucoma due to previous ophthalmic diseases or severe somatic pathology is a special category of patients. Such patients are encountered regularly and require close supervision by both an ophthalmologist and a gynecologist. The evidence base for antiglaucoma drugs is small; there are clinical experiments on animals, which results do not always carry over to humans, and retrospective studies. The doctor's arsenal presently includes a number of drugs that have possible side effects for the fetus, as well as laser and surgical treatment. There is no standard treatment, so each case should be considered individually with an understanding of the physiology, mechanism of action of the drugs and their possible effects. Therefore, glaucoma during pregnancy and lactation is a serious medical problem, and its solution depends on interdisciplinary medical approach.

Autoimmune Encephalitis with Autoantibodies to NMDAR1 following Herpes Encephalitis in Children and Adolescents.

Herpes simplex virus (HSV) type 1 is a frequent pathogen causing infectious encephalitis (HSVE). Early treatment with intravenous acyclovir has led to a significant decrease in mortality. However, especially in children, deterioration during or after HSVE may occur without any evidence of HSV reactivation or improvement following repeated antiviral therapy. Here, we report 15 patients (age range 3 months to 15 years) who suffered from autoimmune encephalitis with autoantibodies to NMDAR1 following Herpes encephalitis, presenting with movement abnormalities (young children) or neuropsychiatric symptoms (older children) as major complaints, respectively. The diagnosis was based on positive cerebrospinal fluid (CSF) and/or serum anti-NMDAR-antibodies with two children showing only positive CSF antibody findings. The time lag between first symptoms and diagnosis of autoimmune encephalitis was significantly longer than between first symptoms and diagnosis of HSVE (p <0.01). All patients improved during immunosuppressive treatment, during which plasmapheresis or rituximab treatments were applied in 11 patients, irrespective of their age. Despite immunotherapy, no patients relapsed with HSVE. Early diagnosis and treatment of autoimmune encephalitis after HSVE may be associated with a better outcome so that high clinical awareness and routine testing for anti-NMDAR-antibodies after HSVE seems advisable. If autoimmune encephalitis is suspected, antibody testing should also be performed on CSF if negative in serum.

P302 Disseminated histoplasmosis: Rare entity in immunocompromised individuals in India

Poster session 2, September 22, 2022, 12:30 PM - 1:30 PMInvasive mycoses kill more than one million people every year. The disease burden of mycoses has increased over the last 20 years and the importance of fungal disease is expected to keep increasing in the years to come. One of these mycoses, histoplasmosis, a disease caused by species of dimorphic genera, Histoplasma and is endemic in the USA, Asia, and Africa with sporadic cases reported from India. In the United States alone, 3.4 cases/100 000 people occur yearly. In India, prevalence of histoplasmosis is seen in the eastern part of the country and few cases are reported from north India. Here, we present four cases of classic progressive disseminated histoplasmosis from non-endemic central and northern parts of India.Cases I and II: Two cases, firstly a 51-year-old male resident of Delhi, came with complaints of fever, generalized weakness and weight loss for the past 6 months, and another a 55-year-old in an apparently immunocompetent female from a non-endemic state in central India. The disease was diagnosed by bone marrow aspirate incidentally.Cases III and IV: A 25-year-old female and a 29-year-old HIV-infected female, with chief complaints of multiple skins colored swellings on her face, neck, chest, and back and also on both limbs. Physical examination revealed multiple skin-colored papules and nodules coalescing to form large plaques on the face, neck, upper back, and chest which had overlying yellowish-brown crusting (Fig.1). Her entire face was involved with depression of the nasal bridge and madarosis. Multiple discrete 0.1-0.5 mm papules and nodules on bilateral upper and lower limbs. Patient was started on the treatment of cutaneous histoplasmosis with injection of liposomal amphotericin-B 100 mg intravenous (around 3 mg/kg/day) after pre-medication for 10 days. For both cases, capsule itraconazole 200 mg BD started for 4 days. Patient responded well to the treatment and follow-up showed improvement in the condition of the patient.ResultsIn all the cases, fine needle aspirate cytology of the lesions showed plenty of inflammatory cells and macrophages in pathological microscopic examination. Microscopic examination of skin tissue revealed that macrophages comprising of yeast forms of Histoplasma have pericellular halo around them. Moreover, on long incubation of biopsy sample on SDA media plate at 27˚C, white/buff colonies with yellow-tan on the back were observed. Furthermore, microscopic examination of grown fungal culture showed mycelial septate hyphae bearing round to pear-shaped, smooth-walled broadly elliptical microconidia, or tuberculate macroconidia. In all the cases, clinical suspicion, histopathological and mycological findings (microscopy, culture and post-culture sequencing) led to a confirmatory diagnosis of progressive disseminated Histoplasmosis by H. capsulatum var. capsulatum was made.ConclusionIn all, 3 of these cases are of progressive disseminated histoplasmosis in apparently immunocompetent patients from the non-endemic states of north India. On the contrary, one of the cases was HIV positive with mucocutaneous lesions. Disseminated histoplasmosis in immunocompetent individuals is not a rare entity, in India. High clinical suspicion and awareness regarding the pathogen are required. From the point of good patient care, an accurate diagnosis, and timely management in cases of histoplasmosis are warranted.

Indications, management, and outcomes of humeral avulsions of the glenohumeral ligament: a systematic review.

To provide an updated overview of recent literature regarding the clinical indications, management, and outcomes of humeral avulsions of the glenohumeral ligament (HAGL) lesion. Medline, Cochrane and Embase were systematically searched using keywords "humeral avulsion of the glenohumeral ligament" and others to identify studies reporting on management of HAGL lesions. Studies were double-screened and reviewed by two blinded authors according to selection criteria. Data was systematically extracted on the following topics: demographics, mechanism of injury, indication for treatment, treatment, post-operative complications, associated injuries, and outcomes including clinical outcome scores, clinical evaluations, and return to activity. There were 14 studies included that evaluated a total of 119 patients with HAGL lesions. In these studies, 69% of patients were male with a mean age of 24 years. Sports (23.5%) and fitness training (41.2%) were the most common injury mechanisms. Instability was the most common indication for treatment, followed by pain and recurrent dislocations. 85 associated lesions were reported, with non-descript labral tears (34.5%) and Bankart lesions (22.4%) being the most common. Out of patients treated, 117 of 119 patients were treated operatively, with 60 open and 57 arthroscopic procedures. A variety of clinical outcome scores showed postoperative functional shoulder improvement and 97% of patients were able to return to some level of activity. HAGL lesions commonly present with associated injuries, necessitating a high clinical awareness of their presentation and management options to prevent undiagnosed lesions that can lead to persistent instability and pain. Surgical management yields good clinical outcomes.

Paget-Schroetter syndrome in an active young female after unsupervised exercise.

Introduction and importanceThoracic outlet syndrome (TOS) is a rare syndrome caused by compression of one of the three neurovascular structures in their passage from the cervical area toward the axilla and proximal arm either at the interscalene triangle, the costoclavicular triangle, or the sub coracoid space. The mainstay of management is nonsurgical; however, surgery may be needed when patients persist with symptoms despite conservative management and when vascular structures are involved. Symptoms are non-specific and require high clinical awareness since this pathology tends to affect otherwise healthy young patients.Case presentationWe present the case of a 45-year-old female without any past medical history. She was active and did plenty of exercises. After a high-intensity routine without any guidance, she presented with acute upper limb swelling with pain. After further examination, a venous thoracic outlet syndrome was identified and treated without complications.Clinical discussion & conclusionVenous TOS is a rare pathology associated with high long-term morbidity and disability if left untreated; heightened clinical awareness of the possibility of acute thrombosis obstructing venous return and producing these rare symptoms should lead the medical team to assess the patient further and lead to the appropriate medical and surgical intervention.

Evans syndrome in adults: an observational multicenter study

AbstractEvans syndrome (ES) is a rare condition, defined as the presence of 2 autoimmune cytopenias, most frequently autoimmune hemolytic anemia and immune thrombocytopenia (ITP) and rarely autoimmune neutropenia. ES can be classified as primary or secondary to various conditions, including lymphoproliferative disorders, other systemic autoimmune diseases, and primary immunodeficiencies, particularly in children. In adult ES, little is known about clinical features, disease associations, and outcomes. In this retrospective international study, we analyzed 116 adult patients followed at 13 European tertiary centers, focusing on treatment requirements, occurrence of complications, and death. ES was secondary to or associated with underlying conditions in 24 cases (21%), mainly other autoimmune diseases and hematologic neoplasms. Bleeding occurred in 42% of patients, mainly low grade and at ITP onset. Almost all patients received first-line treatment (steroids with or without intravenous immunoglobulin), and 23% needed early additional therapy for primary refractoriness. Additional therapy lines included rituximab, splenectomy, immunosuppressants, thrombopoietin receptor agonists, and others, with response rates >80%. However, a remarkable number of relapses occurred, requiring ≥3 therapy lines in 54% of cases. Infections and thrombotic complications occurred in 33% and 21% of patients, respectively, mainly grade ≥3, and correlated with the number of therapy lines. In addition to age, other factors negatively affecting survival were severe anemia at onset and occurrence of relapse, infection, and thrombosis. These data show that adult ES is often severe and marked by a relapsing clinical course and potentially fatal complications, pinpointing the need for high clinical awareness, prompt therapy, and anti-infectious/anti-thrombotic prophylaxis.

S3301 Strongyloides stercoralis: A Case Series Review in a County Hospital in Texas

Introduction: Strongyloidiasis is a rare parasitic disease caused by Strongyloides stercoralis (SS), which is rare in the US, but international travel and immigrants from endemic countries have led to isolated cases. The clinical presentation can be variable ranging from uncomplicated disease, hyper-infection syndrome, to disseminated life-threatening infection. In this case series, we are reviewing clinical presentation and management of patients with strongyloidiasis at a county hospital in Texas. Methods: Patients with strongyloidiasis were selected from February/2017-December/2020 at our hospital. Patient’s demographics, risk factors, clinical presentation, blood work, diagnostic tests, and management were electronically extracted from electronic medical records. Two physicians independently reviewed the collected data. Results: A total of 6 patients were enrolled in this study with 33% females (2/6). Population mean age was 50 years and all patients were Hispanic. 50% (3/6) patients had some degree of immunosuppression, 2 of them with hyperinfection syndrome. On presentation, 50% of patients had eosinophilia, 83% anemia (80% normocytic), 33% diarrhea, 33% hematochezia, and 50% melena. Additionally, 1 of 3 patients with persistent eosinophilia had a co-infection with Toxocara and Schistosoma. 3 of 6 patients were diagnosed with serology, 1 patient with stool sample, and 2 patients with multiple modalities. 83% (5/6) patients underwent Endoscopic evaluation; 4 of 6 patients had bidirectional endoscopy and 1 patient had colonoscopy. The pathological examination of biopsied specimen was conclusive in 2 patients (Table). Conclusion: SS infection has a non-specific presentation that can affect any patient, but immunocompromised patients can have more severe and life-threatening course. Similar to our case series, all of them from known endemic areas, and the immunocompromised patients had complicated disease, such as hyperinfection with Loffler syndrome. The majority of the patients’ gastrointestinal (GI) strongyloidiasis had anemia associated with GI bleeding. However, the endoscopic findings were non-specific and can be seen in different inflammatory conditions. Diagnosis of SS infection is challenging, and it requires high clinical suspicion and awareness of risk factors. Misdiagnosing strongyloidiasis with other autoimmune inflammatory condition can have a devastating impact particularly if immunosuppressants are given since it can exacerbate and lead to death from hyperinfection syndrome.Table 1.: Patient Characteristics.

COVID-19 infection and cardiac angiosarcoma: a dangerous combination\u2014a case report

BackgroundThe COVID-19 pandemic has strained all medical systems, especially in countries like Ecuador, where health services were already limited. These conditions, combined with a deadly and unusual disease, like primary heart angiosarcoma, can lead to severe outcomes. Angiosarcomas represent the most common and aggressive primary malignant heart tumor; regretfully, its clinical manifestations are vague and can be easily missed. Most patients become symptomatic when there is local invasion, embolization, or metastases, leading to late diagnosis and poor survival. High clinical awareness, adequate diagnosis, and prompt treatment are vital in these rare diseases, in which time is of paramount importance.Case presentationWe report the case of a 28-year-old female who had cough, hemoptysis, and ground-glass opacities in the CT (computed tomography). Since Ecuador is in the middle of this pandemic, she was misdiagnosed and mistreated. Primary heart angiosarcoma was diagnosed, and regretfully, the patient suffered multiple complications due to diagnosis and died.ConclusionTo this day, most cardiac angiosarcomas are found in a late-stage with distal metastasis and advanced local invasion. Sadly, this tumor is frequently missed due to its incidence and broad-spectrum of clinical symptoms. Considering that its manifestations can be misleading, misdiagnosis can occur, especially in pandemic times. Therefore, knowledge of other pathologies prevents COVID-19 from overshadowing other diagnoses, hence preventing delayed diagnosis or even misdiagnosis and consequent adverse outcomes for patients.

Survival Analysis of Oral Squamous Cell Carcinoma Patients Attending Tertiary Care Centre of North India.

The cumulative survival for all stages in oral squamous cell cancers (OSCC) in the world remains poor despite the advances in management; hence, we conducted this study to evaluate the survival outcomes. This is a retrospective review and analysis of treatment, follow-up and survival records of 249 OSCC patients treated in our department from April 2010 to April 2014. Telephonic interviews were conducted for survival details for some patients who had not reported. Survival analysis was done using the Kaplan-Meier analysis, comparisons were done using log-rank test and multivariate analysis was conducted using the Cox proportional hazard model to find different variables (site, age, sex, stage and treatment) affecting overall survival (OS)/disease-free survival (DFS). Two-year and 5-year DFS for OSCC were observed to be 72.3% and 58.3% with mean survival of 63.17months (95% CI: 58.342-68.002). Similarly, OS at 2years and 5years were 84.3% and 55.9% with mean survival of 65.143months (95% CI: 60.143-69.601). Tumour site, patient age, stage of disease and treatment modality had a statistically significant hazardous effect on the overall and disease-free survival rates. The significant influence of age, site of tumour, stage of disease and modality of treatment required based on the clinic-pathologic risk factors on prognosis emphasizes the importance of early diagnosis through regular screening and early treatment which can be ensured with early referral, high clinical suspicion and awareness at the point of primary/secondary care.

Pandemic preparedness of community pharmacies for COVID-19.

BackgroundCommunity pharmacies provide an important healthcare service, which is broadly established, and constitutes the preferred and initial contact for members of the community. The significant value of community pharmacies was further highlighted during the COVID-19 pandemic crisis.ObjectiveThe assessment of community pharmacies preparedness for the COVID-19 pandemic.MethodsA cross‐sectional interview survey of 1018 community pharmacies working in four regions of Egypt (South, East, Centre, and North). Data collection was conducted from 8–19 April 2020.ResultsAvailability of personal protective equipment (PPE) and medication was better than alcohol (70% conc.). Home delivery services were available in 49.1% of pharmacies. Infection control measures covering interactions between staff were in place in up to 99.5% of pharmacies. Conversely, there was less frequent availability of contactless payment (29.1%), hand sanitizers (62.1%) or masks (86.5%) for customer use, or a separate area for patients with suspected COVID-19 (64%). Verbal customer education (90.4%) was used preferably to written (81.3%). Despite high clinical knowledge and awareness (97.6%–99.2%), only 8.8% of pharmacists had reported suspected COVID-19 cases, however this varied significantly with pharmacist demographics (geographic region P < 0.001; pandemic training p < 0.001; position p = 0.019; age p = 0.046).ConclusionsGovernment and policymakers strive to mitigate the shortage of PPE and medication. More attention should be given to infection control measures around interactions between staff and customers to ensure community pharmacists are fit and able to provide continuity in their important role. Educating customers using regularly-updated posters, banners or signs will contribute to decreasing contact with patients, and reducing the number and duration of visits to the pharmacy. Pandemic preparedness of community pharmacists must also extend to reporting procedures. By avoiding under-reporting or over-reporting, community pharmacists will contribute to accurate monitoring of the national spread of infection.

MON-435 Hashimoto Thyroiditis and Goiter: Never Cease Follow-Up

BackgroundHashimoto thyroiditis (HT) is the most common cause of hypothyroidism in iodine-sufficient areas. Its incidence is estimated to be 3.5 per 1000 per year in women and 0.8 per 1000 per year in men (3). Primary thyroid lymphoma (PTL) is a rare complication of HT, but often forgotten. Regular follow-up and high clinical suspicion is needed to diagnose this complication early. We present a patient who developed PTL as a complication of HT after 10 years of diagnosis of HT and goiter.Clinical caseA 70-year-old male with history of hypertension and obstructive sleep apnea followed up in the endocrine clinic for the last 10 years for Hashimoto thyroiditis and stable goiter presented with a sudden enlargement of right neck mass. In 2008 he was incidentally diagnosed with HT. In 2010 the patient returned with a neck swelling and further investigation revealed a cold nodule in the right lobe. The patient underwent aspiration biopsy with repeat finding of HT, and was followed up yearly with thyroid ultrasound and TSH. In 2014 due to concern in the echotexture of thyroid on ultrasound, he had a biopsy of the right thyroid nodule with findings again consistent with HT. No significant changes were noted on yearly follow-up ultrasound until March 2019. He presented 5 months later with a large mass on the right side of his neck. Ultrasound showed enlarged and confluent lymph nodes anterior to the enlarged right thyroid gland. Further CT evaluation showed a large right neck mass measuring 5.2 x 7.5 x 12 cm extending from the right thyroid lobe to the level of C1. The mass crossed the midline posteriorly. Fine needle aspiration was positive for malignant cells. A core biopsy confirmed diffuse large B-cell lymphoma. The patient had tests for staging, including bone marrow biopsy, and was found to be stage II E diffuse large B-cell lymphoma involving the thyroid. Subsequently, the patient was started on chemotherapy with RCHOP(Rituximab, Cyclophosphamide,Doxorubicin,Vincristine,Prednisolone).ConclusionAlthough Primary thyroid lymphoma (PTL) is a rare condition, it should always be considered in the differential diagnosis of a rapidly growing goiter or thyroid nodule. Its incidence is 2 per million, with nearly all cases the non-Hodgkin’s type. PTL accounts for only 0.5–5% of all thyroid malignancies and 1% to 7% of all extranodal lymphomas. The prevalence of Hashimoto thyroiditis in patients with PTL is highly variable, but patients with HT have a 40- to 80-fold increased risk of developing PTL. A rapidly enlarging neck mass with or without compressive symptoms is the common presentation of PTL. Most common histotype is diffuse large B cell lymphoma which accounts for 50% to 70% of cases. High clinical suspicion and awareness among physicians is needed to diagnose PTL early. The main treatment is chemotherapy. Surgical interventions are needed to relieve pressure symptoms. The prognosis of PTL is generally excellent.

1477 A Rare Case of Successful Endoscopic Decompression of Ileal-Pouch Volvulus

INTRODUCTION: Ileal-pouch anal anastomosis is a common surgery to restore bowel continence after total proctocolectomy. Obstruction is the most common late complication and occurs in up to 25% of cases. However, Ileal-pouch volvulus is an exceedingly rare complication of this procedure with only 16 published cases. All but one were treated with emergent surgical intervention. We present the second case of successful endoscopic decompression and the first reported in a patient with familial adenomatous polyposis (FAP). CASE DESCRIPTION/METHODS: A 33-year-old female with FAP status-post total proctocolectomy with ileoanal anastomosis and J-pouch formation complicated by history of ventral hernia repair and pouchitis presented with one week of severe left sided abdominal pain and emesis. On the day of presentation she noted new onset of abdominal distension causing her to present to the emergency room. The patients work up was notable for urosepsis, leukocytosis, AKI, hyperkalemia and a metabolic acidosis. A CT showed dilated small bowel loops swirled around a transition point in the left lower quadrant. A barium enema confirmed the diagnosis with barium that did not pass the distal rectum but was not therapeutic. Flexible sigmoidoscopy was then performed and showed twisted bowel with stenosis at 20 cm proximal to the anus. The endoscope was gently advanced with minimal CO2 insufflation and the stenosis re-opened, revealing dark gray, edematous mucosa with black spots. Proximally and distally, the mucosa appeared healthy. A colonic decompression tube was inserted to prevent future volvulus. The patient underwent exploratory laparotomy seven days later. No volvulus or bowel ischemia was found at that time and the pouch appeared viable. Extensive lysis of adhesions in the right upper quadrant and reduction of an internal hernia were performed. A small segment of small bowel was resected due to serosal injury. The patient then completed a course of antibiotics and was discharged home. DISCUSSION: This is a unique case of an extremely rare complication of an Ileal-pouch anal anastomosis. Additional abdominal surgeries, pouchitis and sepsis have been described as risk factors for pouch complications, all of which occurred in our patient and may have contributed to this rare presentation. Endoscopic decompression, if done expeditiously, may prevent loss of the pouch and need for surgical repair. This demonstrates the need for high clinical suspicion and awareness of this rare complication.

Recurrent ischaemic cerebrovascular events as presenting manifestations of myeloproliferative neoplasms.

Myeloproliferative neoplasms (MPNs) - polycythemia vera, essential thrombocythemia and primary myelofibrosis - are associated with increased risk for ischaemic cerebrovascular events (ICVEs). Due to their low prevalence, MPNs often remain undiagnosed as the cause of ICVEs. Case records at the University of Tübingen between 2014 and 2017 were screened to identify patients with MPN-related ICVEs. Clinical features, brain imaging, laboratory findings, applied treatments and neurological outcomes were assessed. In all, 3318 patients with ICVEs were identified, and amongst them 17 patients with MPN-related ICVEs were included in a retrospective study. In 58% of these patients, ICVEs were the first manifestation of the underlying MPN; 24% presented with transient ischaemic attack and 76% with ischaemic stroke. Potentially concurrent ICVE etiologies were noted in 70% of the patients. The majority (94%) of patients were positive for the JAK2 V617F mutation, whilst in 29% recurrent ICVEs (range two to three) were noted prior to MPN diagnosis. Early MPN diagnosis and management was the only significant prognostic factor for ICVE recurrence (P<0.001). Evidence is provided that, although rare, MPNs represent an underdiagnosed cause of recurrent ICVEs. High clinical awareness is warranted to identify an underlying MPN in patients presenting with sustained, abnormal blood count findings. Clinical algorithms for prompt MPN diagnosis and initiation of MPN treatment (e.g. cytoreductive therapy, phlebotomy) are required. As MPN management comprises a significant protective factor against ICVE recurrence, induction of MPN treatment should be regarded as an integral component of secondary stroke prevention in MPN-associated ICVEs.

Synchronous genital and facial hematohidrosis in adult female: first case report from Egypt

Background: Hematohidrosis, also known as hematidrosis or bloody sweat, is a rare condition manifested by sweaty spotty bleeding out of the skin and mucous membranes. Apart from sporadic case reports from around the world, there is a lack of formal study that describes the exact incidence. There is uncertainty of the etiopathogenesis. However, rupture of the capillary ramification around the sweat glands due to severe physical or mental stress has been proposed as an explanation, in addition to some other disorders as a systemic disease and vicarious menstruation. Diagnosis is being confirmed by testing the secretions for blood components. Case Presentation: Herein, we report a case of hematohidrosis in a 28-year-old female with repeated episodes of bloody sweating from all over the face, the genitalia, and the fingertips that have been responding to propranolol and topical timolol. Conclusion: Being a rare disorder, the diagnosis is substantially dependent on high clinical suspicion and physician awareness, which is of paramount importance in patient’s assurance that helps in the alleviation of psychological stress. We assume that the sympathetic overactivity is pivotal in provoking these events and that beta blockers might be an effective treatment.

PP.39.18

Objective: Hypertension (HT) is an ubiquitous condition with an estimated global prevalence of 30%. Essential HT accounts for the majority of cases but a secondary cause can be identified in 5–20% of patients. The ethiology of secondary HT is diverse and includes rare conditions such as juxtaglomerular tumours (JGT). JGT are exceedingly rare: to date there are only 100 cases described worldwide. Most frequently, women between 20 and 30 years of age are affected and the final diagnosis which is based on pathology findings requires a high clinical awareness. Design and method: We describe the case of a 22 year old Caucasian woman, referred to a Hypertension Outpatient clinic at a tertiary reference centre with the provisional diagnosis of secondary HT. When first assessed, she was being treated with a calcium channel blocker, direct renin inhibitor and diuretic (spironolactone) with inadequate blood pressure (BP) control. Target organ damage at presentation included concentric left ventricular hyperthrofy and proteinuria. Further investigation revealed normal catecholamine levels, hypokalaemia and slightly elevated renin levels (234 pg/mL) which were attributed to treatment with a renin antagonist. Results: A renal angio-computed tomography (CT) showed normal renal arteries and a small nodule on the right kidney but was otherwise unremarkable. Despite escalation of treatment with full dose quadruple regimen, BP remained persistently high. Renine levels were repeated and found to be exceedingly raised (3400 pg/mL). Angio-CT was also repeated showing the same nodule previously described which remained unchanged. Conclusions: The hypothesis of JGT was considered and the patient underwent successful laparoscopic tumorectomy with apparently free surgical margins. Anatomopathological examination confirmed the diagnosis. During the post-operative period, a rapid decline in BP was observed. At 4-month follow-up, renin levels have steadily declined (40pg/mL) and the patient remains normotensive without any treatment.

Updated strategies to treat acute arterial complications associated with total knee and hip arthroplasty

Traditional treatment of acute arterial complications associated with total knee arthroplasty (TKA) and total hip arthroplasty (THA) has generally included arteriography followed by open surgery. The purpose of this study was to describe our evolution from open surgery to preferential endovascular treatment for acute arterial complications of TKA and THA. We analyzed our computerized database registry and patient charts for vascular interventions associated with TKA and THA at a hospital with a large volume of orthopedic surgery to determine changing trends in endovascular intervention for these complications. Between 1989 and 2012, 39,196 TKA (26,374 total: 23,205 primary; 3169 revisions) and THA (12,822 total: 10,293 primary; 2529 revisions) were performed. Vascular surgery consultation was provided for the treatment of acute ischemia, hemorrhage, ischemia with hemorrhage, and pseudoaneurysm formation. All interventions were performed within 30 days of joint replacement. A total of 49 (0.13%) acute arterial complications occurred over the 23-year period: 37 (76%) associated with TKA and 12 (24%) with THA. Arterial injury was detected on the same day as the orthopedic procedure in 28 patients, between postoperative days 1 and 5 in 18 patients, and between postoperative days 5 and 30 in three patients. The arterial complications caused ischemia in 28 patients (58%), hemorrhage in six (12%), ischemia with hemorrhage in six (12%), and pseudoaneurysm in nine (18%). Treatment included solely endovascular intervention in 12 (25%), failed endovascular treatment converted to open surgery in one (2%), and open surgery alone in 36 (73%) patients. Before 2002, only 6% (2/32; 2 TKA) of patients were successfully treated with endovascular intervention compared with 59% (10/17; 9 TKA, 1 THA) after June 2002 (P = .0004). There was no mortality, and limb salvage was achieved in all patients. Although the majority of acute arterial complications after TKA and THA are diagnosed on the day of surgery, a high clinical awareness for acute arterial injury should also be present in the postoperative period. Although not always feasible, endovascular management is now our preferred treatment for injuries associated with TKA or THA. This offers substantially shorter time to vascular restoration, with less morbidity than open repair, and equivalent satisfactory outcomes.

Bipolar disorder in children and adolescents in Germany: national trends in the rates of inpatients, 2000–2007

Increasing admission and prevalence rates of bipolar disorder (BD) are a matter of controversy in international child and adolescent psychiatry. We seek to contribute to this discussion by presenting data obtained in a population of German children and adolescents. Nationwide, whole population changes in inpatient admissions of BD and other psychiatric disorders between 2000 and 2007 were analyzed in individuals aged up to 19 years using registry data from the German Federal Health Monitoring System. Inpatient admissions for BD in individuals aged up to 19 years increased from 1.13 to 1.91 per 100,000 or 68.5% between 2000 and 2007 (odds ratio: 1.69; 95% confidence interval: 1.41-2.02), with a nonsignificant decline in children less than 15 years and the largest relative increase in adolescents aged 15-19 years. Inpatient rates for depressive disorders increased by 219.6% and for hyperkinetic disorder by 111.3%. Conduct disorders increased by 18.1%, considerably less than the 38.1% general rise for all mental disorders in children and adolescents. The only significant decline in a diagnostic category occurred for psychotic disorders (-11.8%). BD inpatient admission represented only 0.22% of all mental disorder admissions in 2000 and 0.27% in 2007. An elevation of inpatient admissions of BD in Germany in adolescents was detected, exceeding the general trend for increased mental disorder admissions. The results may indicate a higher clinical awareness and appreciation of mood symptoms at earlier ages and, in part, a reconceptualization of previously diagnosed psychotic disorders in youth. However, a diagnosis of BD in youngsters is still extremely rare in Germany. Diagnoses were based on the judgment of the treating physician. A correction for multiple admissions in the data set is not possible.

Catastrophic antiphospholipid syndrome (CAPS): Descriptive analysis of a series of 280 patients from the “CAPS Registry”

ObjectiveTo describe the clinical and laboratory features, as well as the precipitating factors, treatment and outcome of patients with catastrophic antiphospholipid syndrome (APS). MethodsWe analyzed the 280 patients included until September 2008 in the website based international registry of patients with catastrophic APS (“CAPS Registry”) (http://www.med.ub.es/MIMMUN/FORUM/CAPS.HTM). ResultsThe entire series includes 201 (72%) female and 79 (28%) male patients with a mean age of 37±14 years (range, 11–60 years). A total of 129 (46%) patients suffered from primary APS, 112 (40%) from systemic lupus erythematosus, 14 (5%) from lupus-like disease, and 25 (9%) from other autoimmune diseases. The catastrophic episode was the first manifestation of the APS in 129 (46%) patients. A precipitating factor was reported in 53% of the patients. The first clinical manifestation at the time of the catastrophic episode was a pulmonary complication in 24% of the cases, a neurologic feature in 18% and a renal feature in 18%. During the catastrophic episode, intraabdominal involvement was identified in the majority of patients, mainly consisting of renal (71%), hepatic (33%), gastrointestinal (25%), splenic (19%), adrenal (13%), and pancreatic (8%) manifestations. 123 (44%) patients died at the time of the catastrophic APS event but the higher recovery rate was achieved by the combination of anticoagulants plus corticosteroids plus plasma exchange (PE) and/or intravenous immunoglobulins (IVIG) (69% versus 54%). ConclusionsThe catastrophic APS is an uncommon but potentially life-threatening condition that needs high clinical awareness. The therapeutical connotation is that this may be corrected with the combination of anticoagulation plus steroids plus attempts at achieving a prompt reduction of antiphospholipid antibody titer (i.e. PE and/or IVIG).

A higher diagnostic profile is possible for microscopic colitis: authors’ reply

Sirs, We thank Cammarota et al. for their comments and interest in our article. We agree that efforts to facilitate and improve the diagnosis of collagenous colitis (CC) are essential. In general, the colonic mucosa is macroscopically normal in CC, but about 30 % of the patients have minor mucosal abnormalities, which easily may be overlooked.1 The histopathological changes are most prominent in the proximal colon and may be absent in the sigmoid or rectum.2, 3 As Cammarota et al. point out, endoscopic ultrasonography and confocal endomicroscopy have been applied in CC, though in a limited number of patients so far. In addition to these new interesting techniques, chromoendoscopy by vital staining with indigo carmine of the colonic mucosa during colonoscopy has been used in a few patients with CC to enhance the macroscopic assessment.4, 5 An uneven and coarse surface with a different staining pattern has been reported in CC compared with the normal mucosa. Whether this staining technique or the other mentioned endoscopic techniques would increase the diagnostic yield of mucosal biopsies in CC remains to be proved. Until these interesting new techniques have been tested in larger prospective studies we have to rely on a high clinical awareness of the disorder by the endoscopist. Currently, a pan-colonoscopy with multiple biopsies throughout the colon still remains the best diagnostic method.

Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.

Selective intestinal malabsorption of vitamin B(12) causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively inherited disorder that is believed to be rare except for notable clusters of cases in Finland, Norway, and the Eastern Mediterranean region. The disease can be caused by mutations in either the cubilin (CUBN; MGA1; MIM# 602997) or the amnionless (AMN; MIM# 605799) gene. To explain the peculiar geographical distribution, we hypothesized that mutations in one of the genes would mainly be responsible for the disease in Scandinavia, and mutations in the other gene in the Mediterranean region. We studied 42 sibships and found all cases in Finland to be due to CUBN (three different mutations) and all cases in Norway to be due to AMN (two different mutations), while in Turkey, Israel, and Saudi Arabia, there were two different AMN mutations and three different CUBN mutations. Haplotype evidence excluded both CUBN and AMN conclusively in five families and tentatively in three families, suggesting the presence of at least one more gene locus that can cause MGA. We conclude that the Scandinavian cases are typical examples of enrichment by founder effects, while in the Mediterranean region high degrees of consanguinity expose rare mutations in both genes. We suggest that in both regions, physician awareness of this disease causes it to be more readily diagnosed than elsewhere; thus, it may well be more common worldwide than previously thought.