Mild Clinical Presentation Research Articles

Pulmonary alveolar microlithiasis: A case report and review of the literature

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterized by the formation of calcium phosphate microliths in the alveoli. Mutations in the gene encoding the solute carrier family 34 member 2 gene are considered to be involved in the pathogenesis of PAM. Although PAM can develop in children, the majority of patients with PAM are diagnosed in adulthood due to the slow progressive nature of the disease within the lungs. In childhood, the majority of patients with PAM are asymptomatic and changes in the lung parenchyma are usually identified incidentally. Symptoms of PAM typically appear in the third or fourth decade of life and there is often a notable dissociation between the advanced radiological findings and the mild clinical presentation. A positive diagnosis of PAM is reached by the combination of a positive chest radiograph and histological examination. Genetic testing may help to identify other latent patients in the family of the patient with PAM. In the present study, the cases of 3 patients diagnosed with PAM have been reported, including their clinical presentation, radio imaging, pathological symptoms, genetic test results and treatment plans, as well as the associated literature.

Progress on diagnosis and treatment of proximal tibiofibular joint dislocation

Dislocation of proximal tibiofibular joint(PTFJ) is relatively infrequent in clinic, it can be either isolated or associated with tibia fracture, fibular fracture and ankle injury and so on. Chronic symptomatic PTFJ instability are easily mixed with meniscal tears. It was easily neglected because of the mild clinical presentation and atypical change on radiography. Early diagnosis and treatment are crucial to prevent chronic knee pain and instability. The paper concluded the anatomy, classification, complication, diagnosis, treatment, clinical effect and insufficient of the dislocation of PTFJ, to direct the diagnosis and treatment of proximal tibiofibular joint dislocation in clinical work.

Differences in Clinical Characteristics and Outcomes of Patients with Community-Onset Clostridium difficile Infection who Tested Positive by EIA Compared with NAAT through a Two-Step Algorithm

BackgroundThe low sensitivity of toxin enzyme immunoassay (EIA) for the diagnosis of Clostridium difficile infection (CDI) motivated many laboratories to add nucleic acid amplification tests (NAAT) to their testing protocol. However, NAAT do not distinguish between colonization and infection, and indiscriminant testing could lead to over treatment of CDI.MethodsActive, population-based CDI surveillance has been conducted through the Emerging Infections Program in Bernalillo County, NM since 2011, with test type collected at the individual level since 2014. Community-onset (CO) CDI cases with a first positive test diagnosed by a two-step algorithm (concurrent EIA/GDH, with discordant results reflexed to NAAT) in 2014–2015 were included. We analyzed clinical characteristics and outcomes of patients EIA positive compared with NAAT positive. Demographics, risk factors, treatment, and outcomes were assessed through medical record review.ResultsAmong 1,063 cases, 559 (52.6%) were EIA positive only and 504 (47.4%) were NAAT positive only. Of those with stool collected as a hospital inpatient, 57% were NAAT positive (P < 0.001); this increased from 43.4% if tested the day of admission to 61.4% when tested on day three. Conversely, 38.6% of patients with stool collected in an emergency department were NAAT positive (P = 0.004). Fewer cases with complicated outcomes were NAAT positive (40.7%, P = 0.023). Among those with no documentation of recent antibiotic use, 64.3% were NAAT positive (P < 0.001), and 67.8% of cases with no CDI treatment were NAAT positive (P = 0.005). Only 28.3% percent of cases with recurrent CDI were initially NAAT positive (P < 0.001).ConclusionEIA negative and NAAT positive CO-CDI cases tended to have a milder clinical presentation than those that were EIA positive. This suggests that some patients positive only by NAAT may have mild CDI or be colonized, rather than infected, with C. difficile. These individuals were less likely to have complicated outcomes, have recent documented antibiotic use, be treated for CDI, or have a recurrent CDI episode than those positive by EIA. Longer hospital stay correlated with increased proportion of testing NAAT positive. Providers may benefit from considering testing protocol and clinical correlation when assessing patients with positive C. difficile test results.Disclosures All authors: No reported disclosures.

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel ATP7A pathogenic variant (c.4222A>T, p.(Lys1408*)), representing the first nonsense variant and the second late truncation causing OHS rather than classic Menkes disease, was found to segregate in the family. The predicted maintenance of transmembrane domains is consistent with a residual protein activity, which may explain the mild clinical presentation.

The Long-Term Consumption of Oats in Celiac Disease Patients Is Safe: A Large Cross-Sectional Study.

A strict gluten-free diet (GFD) can be diversified by non-contaminated oats, but there is a shortage of long-term studies concerning its safety. We compared long-term treatment outcomes and factors associated with the introduction of oats between celiac patients on a GFD with or without oats. Eight hundred sixty-nine previously diagnosed celiac patients were interviewed. The validated Gastrointestinal Symptom Rating Scale (GSRS), Psychological General Well-Being (PGWB), and Short-Form 36 Health Survey (SF-36) questionnaires were used to assess symptoms and quality of life, serological tests were performed, and results of histology were confirmed from patient records. We found the median duration of GFD to be 10 years and 82% using oats. Factors predicting the consumption of oats were diagnosis after the year 2000, advice from a dietitian, detection by screening, and mild clinical presentation. Oat consumers and non-consumers did not differ in dietary adherence (96.5% vs. 97.4%, p = 0.746), the prevalence of symptoms (22.9% vs. 22.5%, p = 0.931), positivity for endomysial antibodies (8.8% vs. 6.0%, p = 0.237), histological recovery after one year (63.1% vs. 60.0%, p = 0.773), malignancy (4.8% vs. 3.3%, p = 0.420), osteoporosis/osteopenia (9.2% vs. 11.0%, p = 0.489), or fractures (26.9% vs. 27.9%, p = 0.791). The oat consumers had better SF-36 physical role limitations and general health scores. Based on our results, the long-term consumption of oats in celiac disease patients is safe and may improve quality of life.

Clinical presentation of invasive disease caused by Neisseria meningitidis serogroup Y in Sweden, 1995 to 2012.

Over the period 1995-2012, the incidence of invasive meningococcal disease (IMD) caused by Neisseria meningitidis serogroup Y (NmY) increased significantly in Sweden. This is mainly due to the emergence of a predominant cluster named strain type YI subtype 1, belonging to the ST-23 clonal complex (cc). The aim of this study was to examine the clinical picture of patients with invasive disease caused by NmY and to analyse whether the predominant cluster exhibits certain clinical characteristics that might explain the increased incidence. In this retrospective observational study, the medical records available from patients with IMD caused by Nm serogroup Y in Sweden between 1995 and 2012 were systematically reviewed. Patient characteristics, in-hospital findings and outcome were studied and differences between the dominating cluster and other isolates were analysed. Medical records from 175 of 191 patients were retrieved. The median age was 62 years. The all-cause mortality within 30 days of admission was 9% (15/175) in the whole material; 4% (2/54) in the cohort with strain type YI subtype 1 and 11% (12/121) among patients with other isolates. Thirty-three per cent of the patients were diagnosed with meningitis, 19% with pneumonia, 10% with arthritis and 35% were found to have bacteraemia but no apparent organ manifestation. This survey included cases with an aggressive clinical course as well as cases with a relatively mild clinical presentation. There was a trend towards lower mortality and less-severe disease in the cohort with strain type YI subtype 1 compared with the group with other isolates.

Diagnostic Approach in Biliary Strictures After Pediatric Liver Transplantation.

BACKGROUND The diagnosis of post-liver transplant biliary strictures (BS) requires a high degree of clinical suspicion because of the diversity of symptoms and usually mild clinical presentation. If quickly treated, successful outcome is achieved most cases. The aim of our study was to analyze the value of diagnostic methods in BS after pediatric LTx. MATERIAL AND METHODS We retrospectively reviewed clinical data of children with BS after liver transplantation, with the main focus on diagnostic methods, including imaging studies and histology. All patients underwent endoscopic, transhepatic, or surgical treatment of the stricture. RESULTS Sixty-seven patients after LTx performed at the median age of 9.1 years (0.4-18) developed BS, mostly within the first 12 months (40%). Laboratory findings at diagnosis were: bilirubin 4.65 (5.8±SD), GGTP 434 (382.9±SD), and ALT 126.5 (116.8±SD); 16 patients presented with bilirubin level <1 mg% and 4 with GGTP below 100 IU. Ultrasound scan (USS) visualized dilatation of the bile ducts in 53 (79%) patients. Overall sensitivity of hepatobiliary scintigraphy (HBS) was 93%, with dilatation of bile ducts in 69% and impaired excretion in 68% of patients. MRCP showed 100% accuracy in detecting biliary dilatation and a stricture was visualized in 39%. Liver histology was consistent with biliary obstruction in 66%. Treatment of BS was successful in the majority of cases, with 89% graft survival. CONCLUSIONS Non-invasive investigations are highly sensitive in post-transplant BS and should play the key role in diagnostic algorithms.

Clinico-Epidemiological Profile of Adolescent and Adult Patients with Tegumentary Leishmaniasis from the Colombian Southwest 2004–2014: Considerations for Local Therapies

Background Systemic treatments for Cutaneous Leishmaniasis (CL) have many limitations. Local therapies are an alternative option for this disease. Available Pan-American Health Organization (PAHO) and World Health Organization (WHO) treatment guidelines were designed based on expert opinion considering clinical criteria for local treatment which influences feasibility of implementation of these treatment modalities. In this study, we evaluated the clinico-epidemiological profile and the eligibility for the use of local therapies with current guidelines of patients with CL at the Centro Internacional de Entrenamiento e Investigaciones Médicas (CIDEIM) from 2004 to 2014.Methods A descriptive study was conducted based on clinical records of adolescents (≥12 years) and adults (≥18 years) with confirmed parasitological diagnosis of tegumentary leishmaniasis. Incomplete or unconfirmed records were excluded. We applied WHO criteria (≤3 lesions, longest diameter <5 cm, no disfiguring/incapacitating potential, no immunosuppression) and PAHO (single lesion, diameter ≤3 cm, any location except head and joints, absence of immunosuppression) to assess eligibility for local treatment.ResultsAmong 3,691 records, a total of 1,834 met inclusion criteria. Fourteen percent of records were from adolescent patients and 86% were adults, all from southwestern Colombia. Regarding the clinical presentation of patients, most (57.3%) had a single lesion and 86.2% had ≤ 3 lesions with a median = 2 cm (IQR 1–2). Lesions presented predominantly on upper limbs (40.9%), followed by lower limbs (23.2%). According to PAHO and WHO criteria, 18% (12.3% adult vs. 19.3%, P = 0.007) and 44.4% (adolescents 42% vs. adults 43%, P = 0.45), respectively, were eligible for local therapies.Conclusion Local therapies have feasible use in this population with mild and uncomplicated clinical presentation; however, its applicability is limited to current management criteria. Individualized risk–-benefit assessment may increase eligibility.Disclosures All authors: No reported disclosures.

Identification and Characterization of a New Mutation in Coagulation Factor VII (Carmel mutation), with Different Reactivity Towards Tissue Factors of Different Origin

Inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder manifested by bleeding tendency in homozygotes or compound heterozygotes. The bleeding tendency is variable and does not always correlate with the measured amount of FVII. More than 30 mutations causing FVII deficiency have been identified. The aim of this study was to identify the molecular defect in a family with FVII abnormality and to characterize the functional defect and its clinical consequences.An 80 year old woman showed various prolonged prothrombin time (PT) dependent on the origin of tissue factors (TF) in the reagents, in the range of 5-18%. FVII activity measured using placenta human TF was ~4% and less than 1% using recombinant human TF or rabbit brain TF. Direct sequencing of PCR-amplified FVII genomic DNA exons demonstrated a single homozygous nucleotide exchange G>A in exon 6 predicting missense mutation Tyr164Cys, in close vicinity to the active site of the protease and to the binding site of FX.Sequencing of exon 6 in six members of the family comprising three generations was performed. All of them exhibited low activity of FVII. Direct sequencing of PCR-amplified exon 6 demonstrated that her son, daughter and grand-daughter are heterozygote to the novel mutation, Tyr164Cys, henceforth, Carmel mutation. The grand -daughter (third generation) was identified as a compound heterozygote carrying in addition an Ala244Val mutation along with a Arg353Gln polymorphism, a well-known linkage previously characterized in the Israeli population, inherited from the paternal side. Her FVII activity was 3-7% and 8% FVII antigen. In the individuals heterozygote for Tyr164Cys we detected 41-54% activity and 46-66% antigenic FVII.The measurement of VIIa in the proband and her grand-daughter could not demonstrate any activity in plasma, possibly because of perturbation of the interaction between the mutated FVII and TF or FX which are part of the assay. The heterozygote for Tyr164Cys showed approximately 30% FVIIa of normal controls .Despite the dramatic laboratory presentation, the clinical manifestation of the Tyr164Cys genotype is very mild, suggesting that a low level of FVII is sufficient to prevent bleeding. The homozygous patient reached an old age, gave birth to two children and did not suffer any major bleedings during her life. The compound heterozygote presents a similar phenotype with slightly higher FVII activity and antigen, no measurable FVIIa activity and mild clinical presentation. Further investigation into this novel mutation is needed in order to characterize the interaction of the FVII with TF, phospholipids and FX and to understand the reason for such low amount of FVII protein in plasma. DisclosuresNo relevant conflicts of interest to declare.

Clinical Impact and Course of Anticoagulant-Related Major Bleeding in Cancer Patients

BackgroundVenous thromboembolism (VTE), comprising deep vein thrombosis and pulmonary embolism, is a frequent complication in cancer patients. During anticoagulant treatment for VTE, the risk of major bleeding events (MBE) is 2- to 6-fold higher in cancer patients than in those without cancer. It is unknown whether the clinical presentation and course of anticoagulant-related MBE in cancer patients differ from patients without cancer.MethodsIndividual patient data from 4 randomized controlled phase III trials in which factor Xa inhibitors (rivaroxaban, apixaban, and edoxaban) were compared with vitamin K antagonists for the treatment of VTE were used for the present analysis. The severity of the clinical presentation and clinical course of anticoagulant-related MBE were compared between patients with and without cancer. Using predefined criteria, the severity of the clinical presentation and course of MBE were classified into four categories by independent adjudicators, who were blinded to treatment allocation. Category 1 indicates a mild clinical presentation or course, while category 4 indicates a severe presentation or course (Table 1). A one-stage meta-analysis was used to estimate crude odds ratios (ORs) and ORs adjusted for age, sex, and type of anticoagulant treatment with 95% confidence intervals (CIs) for the effect of cancer on the severity of the clinical presentation and course. For this analysis categories 3 and 4 were combined. We also explored the cause and site of bleeding in these patients.ResultsThe study group comprised 290 patients with MBE, of whom 50 (17%) had active cancer or were diagnosed with cancer during follow-up. The clinical presentation was judged to be severe (category 3 or 4) in 38% of patients with cancer and 44% of patients without cancer (adjusted OR 0.90, 95% CI 0.47-1.72). Clinical course was judged to be severe in 20% and 25% of patients with and without cancer, respectively (adjusted OR 0.75, 95% CI 0.35-1.61) (Table 2). The bleeding pattern varied significantly between the two groups (p=0.002); cancer patients more often had gastrointestinal (52% vs. 35%) and vaginal (14% vs. 6%) MBE, whereas intracranial (19% vs. 6% and retroperitoneal (5% vs. 0%) MBE occurred more often in patients without cancer (Table 3). MBE was related to the tumor site in 40% of cancer patients.ConclusionThe findings of the present study indicate that the clinical presentation and course of anticoagulant-related MBE are not more severe in cancer patients than in patients without cancer, which is reassuring for physicians who treat cancer-associated VTE. [Display omitted] [Display omitted] [Display omitted] DisclosuresEerenberg:Sanquin: Consultancy; CSL Behring: Consultancy; Baxter: Consultancy. Middeldorp:Aspen: Consultancy, Honoraria; Boehringer Ingelheim: Consultancy; Daiichi Sankyo: Consultancy, Honoraria; Bayer: Consultancy; Sanquin: Consultancy; GSK: Consultancy, Honoraria; BMS/Pfizer: Consultancy, Honoraria. Cohen:Takeda: Consultancy; Leo Pharma: Consultancy; GlaxoSmithKline: Consultancy, Speakers Bureau; Daiichi Sankyo: Consultancy, Honoraria, Speakers Bureau; Bayer: Consultancy, Honoraria, Speakers Bureau; Department of Health: Membership on an entity’s Board of Directors or advisory committees; Bristol-Myers Squibb: Consultancy, Honoraria, Speakers Bureau; Medscape: Speakers Bureau; UK Government Health Select Committee: Membership on an entity’s Board of Directors or advisory committees; Boehringer Ingelheim: Consultancy, Speakers Bureau; Colation to Prevent Venous Thromboembolism: Other: Founder; NHS: Membership on an entity’s Board of Directors or advisory committees; Johnson & Johnson: Consultancy, Honoraria, Speakers Bureau; Pfizer: Consultancy, Honoraria, Speakers Bureau; Aspen: Consultancy, Speakers Bureau; ONO: Consultancy, Honoraria; XO1: Consultancy, Honoraria; Portola: Consultancy, Honoraria, Speakers Bureau; Janssen: Consultancy; Lifeblood: Membership on an entity’s Board of Directors or advisory committees; Sanofi: Consultancy, Honoraria.

Promoter hypermethylation of SHOX2 and SEPT9 is a potential biomarker for minimally invasive diagnosis in adenocarcinomas of the biliary tract.

BackgroundBiliary tract carcinoma (BTC) is a fatal malignancy which aggressiveness contrasts sharply with its relatively mild and late clinical presentation. Novel molecular markers for early diagnosis and precise treatment are urgently needed. The purpose of this study was to evaluate the diagnostic and prognostic value of promoter hypermethylation of the SHOX2 and SEPT9 gene loci in BTC.MethodsRelative DNA methylation of SHOX2 and SEPT9 was quantified in tumor specimens and matched normal adjacent tissue (NAT) from 71 BTC patients, as well as in plasma samples from an independent prospective cohort of 20 cholangiocarcinoma patients and 100 control patients. Receiver operating characteristic (ROC) curve analyses were performed to probe the diagnostic ability of both methylation markers. DNA methylation was correlated to clinicopathological data and to overall survival.Results SHOX2 methylation was significantly higher in tumor tissue than in NAT irrespective of tumor localization (p < 0.001) and correctly identified 71% of BTC specimens with 100% specificity (AUC = 0.918; 95% CI 0.865–0.971). SEPT9 hypermethylation was significantly more frequent in gallbladder carcinomas compared to cholangiocarcinomas (p = 0.01) and was associated with large primary tumors (p = 0.01) as well as age (p = 0.03). Cox proportional hazard analysis confirmed microscopic residual tumor at the surgical margin (R1-resection) as an independent prognostic factor, while SHOX2 and SEPT9 methylation showed no correlation with overall survival. Elevated DNA methylation levels were also found in plasma derived from cholangiocarcinoma patients. SHOX2 and SEPT9 methylation as a marker panel achieved a sensitivity of 45% and a specificity of 99% in differentiating between samples from patients with and without cholangiocarcinoma (AUC = 0.752; 95% CI 0.631–0.873).Conclusions SHOX2 and SEPT9 are frequently methylated in biliary tract cancers. Promoter hypermethylation of SHOX2 and SEPT9 may therefore serve as a minimally invasive biomarker supporting diagnosis finding and therapy monitoring in clinical specimens.Electronic supplementary materialThe online version of this article (doi:10.1186/s13148-016-0299-x) contains supplementary material, which is available to authorized users.

Pediatric parapneumonic effusion and empyema - Criteria to predict the need for surgical intervention

To assess if stratification of patients based on clinical severity, laboratory markers and radiological findings at presentation would enable better prediction for the need for a surgical intervention. Single-centre retrospective cohort study done in the in-patient pediatric wards of a tertiary care centre in the State of Qatar. Participants – 56 children (aged 6 months – 14 years) with empyema or parapneumonic effusion, from July 2009- June 2013. Patients were classified into mild and severe clinical presentation based on the 2011 British thoracic society (BTS) pneumonia guidelines. Interventions were categorized as conservative (antibiotics only), non-conservative (antibiotic and surgical intervention). The values of CRP, ESR, WBC count, upon admission and follow up were also assessed, along with pleural fluid markers such as LDH, glucose and PH. The chest X-ray and chest USG were also assessed for severity and loculations. Of the 56 patients included, 29 (52%) had severe and 27 (48%) had mild clinical presentation. 26 patients (46.4%) were managed conservatively, while 30 patients (53.6%) required intervention. Younger patients (3.8 ± 3 years) tend to have increased risk for intervention, severe clinical presentation and loculations on USG. Age ≤ 5 years, severe clinical presentation, serum WBC count ≥ 20,000/mm3, ESR ≥ 80 mm/hr, serum CRP ≥ 100 mg/dl, moderate to severe effusion on chest radiograph and presence of loculation on USG individually increased the likelihood for a surgical intervention in pediatric patients with parapneumonic effusion. Having ≥ 4 out of 7 criteria accurately predicted a high risk for the need for surgical intervention (OR-6.93, 95%CI-1.2-37, p-0.023, sensitivity 72%, specificity 73%). Having ≥ 4 out of 7 criteria accurately predicted a high risk for the need for surgical intervention. Prospective trials are recommended to see if this would enable homogeneity in deciding when to intervene in patients with parapneumonic effusion thereby reducing the LOS and cost-burden on the healthcare system.

Safety and Efficacy of Surgical Treatment of Small Petroclival Meningiomas

Objective: To clarify the safety and efficacy of surgical management of small petroclival meningiomas, which is under discussion in patients with mild or none clinical presentation.

Hb E-β-Thalassemia in Five Indian States

Hb E [β26(B8)Glu→Lys; HBB: c.79G > A]-β-thalassemia (β-thal) has an extremely variable clinical presentation. We report the clinical features of these patients from five Indian states together with their hematological and molecular characteristics. Seventy-eight Hb E-β-thal patients from different regions [West Bengal (30), Maharashtra (21), Uttar Pradesh (13), Bihar (11), Orissa (3)] were clinically evaluated along with hematological profiles and molecular characteristics (β-thal mutations, XmnI polymorphisms, α genotypes). Twenty-nine of the 78 patients had a mild clinical presentation (clinical score 2.2 ± 1.1), while 15 had moderate severity (clinical score 6.1 ± 1.2) with occasional transfusion needs, and 34 patients were severely affected (clinical score 8.2 ± 0.5) requiring regular blood transfusions. The age at clinical presentation in the severely affected patients was lower (6 months-10 years) as compared to those with milder symptoms (2 years-34 years). Thirty-four patients showed splenomegaly (spleen ≥3 cm below the costal margin) and five patients were splenectomized. The severe β+ IVS1-5 (G > C) (HBB: c.92 + 5G > C) was the most common β-thal mutation, while seven other mutations were also seen. The XmnI [+/+] and [–/–] polymorphisms were seen in 24.1 and 10.3% of mildly affected patients and 14.7 and 17.6% of severely affected patients respectively. A single α gene deletion (–α3.7/αα) was found in 20.7% of mildly affected and 5.9% of severely affected patients, respectively. No specific differences in the clinical, hematological or molecular characteristics were observed in the Hb E-β-thal patients from various geographic regions or different ethnic groups.

Pulmonary Alveolar Microlithiasis “Stone Lungs”: A Case of Clinico-Radiological Dissociation

Pulmonary alveolar microlithiasis (PAM) is a rare infiltrative lung disease characterized by deposition of spherical calcium phosphate microliths called calcospherites within the alveoli. PAM was first described by Friedrich in 1856 and then by Harbitz in 1918. The disease pathogenesis is based on mutations in the SLC34A2 gene that encodes for the Type IIb sodium-phosphate cotransporter. The majority of the patients are diagnosed at an early age, usually between the ages of 20 and 40 years. The hallmark of this disease is a striking dissociation between the radiological findings and the mild clinical symptoms. We report a case of 35-year-old woman who presented post-motor vehicle accident with back pain and with minimal dyspnea on exertion. The final diagnosis was made after computed tomography and lung biopsy. The present case exhibits the remarkable clinico-radiological dissociation with complete calcification of the lungs on radiographic images with a relatively mild clinical presentation.

Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult

Abstract This study is the first to report epidermodysplasia verruciformis (EV) associated with ARTEMIS deficiency in a young adult. This broadens the clinical scope of ARTEMIS deficiency, and provides a new genetic etiology for susceptibility to EV.

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

The classical phenotypes of collagen VI-associated myopathies are well described. Little is known, however, about the progression of patients at the mildest end of the clinical spectrum. In this report, we describe the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series of patients with Bethlem myopathy. Our series highlights the existence of mild presentations of this disorder that progresses only slightly and can easily be overlooked. Analysis of the genetic studies suggests that missense mutations can be associated to a milder clinical presentation. Muscle MRI is extremely useful as it shows a pathognomonic pattern in most patients, especially those with some degree of muscle weakness.

A Rare Case of Primary Meningococcal Myopericarditis in a 71-Year-Old Male.

We describe a case of primary meningococcal C pericarditis with myocardial involvement in a 71-year-old male that is thus far the oldest patient with isolated meningococcal pericardial disease and only the third patient with primary meningococcal myopericarditis described in English literature. Our patient was successfully treated by full sternotomy and surgical drainage combined with intravenous ceftriaxone. Mild symptoms unresponsive to anti-inflammatory treatment and leukocytosis may guide clinicians towards the correct diagnosis. It is important to recognize this cause of pericarditis as the relatively mild clinical presentation may rapidly progress into tamponade and right-sided heart failure.

Yaygın Cilt Nekrozu ile Prezente Olan Puerperal Mastit

Puerperal mastitis occurs in approximately one third of the lactating women. It often has mild and localized clinical presentation, which can be easily treated by changing breastfeeding technique, breast massage, or simple antibiotics. However, lactation mastitis rarely presents as extensive necrotizing disease. In this paper, we report a case of an extensive necrotizing mastitis in a 23-year-old healthy woman, which presented ten days postpartum. Extensive debridement was avoided not to cause a large mammarian tissue loss, therefore she was mainly treated by wound care with topical nitrofurazone regularly for one month. Although this serious condition was reported to be associated with several accompanying systemic disorders such as diabetes mellitus and autoimmune vasculitis, it can also develop in healthy breastfeeding women. Differential diagnosis includes inflammatory breast carcinoma and granulomatous mastitis. The treatment should be based on the extention of the disease, particularly in case of the necrotizing mastitis limited to skin.

Subarachnoid Haemorrhage and Sports

Background: Some cases of subarachnoid haemorrhage (SAH) have been associated with vigorous physical activity, including sports. Our research aimed to describe the association between SAH and sports and to identify the types of sports that were more frequently found as precipitating factors in a tertiary single-centre SAH register. Methods: We retrieved information from a prospectively collected SAH registry and reviewed discharge notes of acute SAH patients admitted to the Stroke Unit of Hospital de Santa Maria, Lisbon, between 1995 and 2014. Results: Out of 738 patients included in the analysis, 424 (57.5%) cases of SAH were preceded by physical activity. Nine cases (1.2%) were associated with sports, namely running (2 cases), aerobics (2 cases), cycling, body balance, dance, surf and windsurf. Patients with SAH while practicing sports were younger than controls (average age 43.1 vs. 57.0 years; p = 0.007). In 1 patient, there was a report of trauma to the neck. Patients in the sports group only had Hunt and Hess scale grades 1 (11.1%) or 2 (88.9%) at admission, while patients in the control group had a wider distribution in severity. Conclusions: Our findings indicate that SAH precipitated by sports is not very frequent and is uncommonly related to trauma. Patients who suffered SAH associated with sports were younger and apparently had a milder clinical presentation.