Rare presentations of small bowel endometriosis.

Despite endometriosis being a relatively common chronic gynecological condition in women of childbearing age, small bowel endometriosis is rare. Presentations can vary from completely asymptomatic to reported symptoms of abdominal pain, bloating, and diarrhea. The following two cases depict very atypical manifestations of ileal endometriosis that presented as obscure intermittent gastrointestinal bleeding and bowel obstruction requiring surgical intervention. The first case describes a previously healthy 40-year-old woman with severe symptomatic iron deficiency anemia and intermittent melena. A small bowel enteroscopy diagnosed multiple ulcerated strictures in the distal small bowel as the likely culprit. Despite nonsteroidal anti-inflammatory drug-induced enteropathy being initially considered as the likely etiology, histopathological examination of the resected distal ileal segment revealed evidence of endometriosis. The second case describes a 66-year-old with a presumptive diagnosis of Crohn's disease who reported a 10-year history of intermittent perimenstrual abdominal pain, diarrhea, and nausea with vomiting. Following two subsequent episodes of acute bowel obstruction and surgical resection of the patient's stricturing terminal ileal disease, histopathological examination demonstrated active chronic inflammation with endometriosis. Small bowel endometriosis should be considered as an unusual differential diagnosis in women who may present with obscure gastrointestinal bleeding from the small bowel or recurrent bowel obstruction.

The influence of color vision deficiency on vessel visibility during colorectal endoscopic submucosal dissection and the potential advantage of red dichromatic imaging to achieve color vision barrier-free.

Objectives: Although color information is important in gastrointestinal endoscopy, there are limited studies on how endoscopic images are viewed by people with color vision deficiency. We aimed to investigate the differences in the visibility of blood vessels during endoscopic submucosal dissection (ESD) among people with different color vision characteristics and to examine the effect of red dichromatic imaging (RDI) on blood vessel visibility. Methods: Seventy-seven pairs of endoscopic images of white light imaging (WLI) and RDI of the same site were obtained during colorectal ESD. The original images were set as type C (WLI-C and RDI-C), a common color vision. These images were computationally converted to simulate images perceived by people with color vision deficiency protanope (Type P) or deutanope (Type D) and denoted as WLI-P and RDI-P or WLI-D and RDI-D. Blood vessels and background submucosa that needed to be identified during ESD were selected in each image, and the color differences between these two objects were measured using the color difference (ΔE 00) to assess the visibility of blood vessels. Results: ΔE 00 between a blood vessel and the submucosa was greater under RDI (RDI-C/P/D: 24.05 ± 0.64/22.85 ± 0.66/22.61 ± 0.64) than under WLI (WLI-C/P/D: 22.26 ± 0.60/5.19 ± 0.30/8.62 ± 0.42), regardless of color vision characteristics. This improvement was more pronounced in Type P and Type D and approached Type C in RDI. Conclusions: Color vision characteristics affect the visibility of blood vessels during ESD, and RDI improves blood vessel visibility regardless of color vision characteristics.

Risk and prevalence of Relative Energy Deficiency in Sport (REDs) among professional female football players.

A high prevalence of low energy availability (LEA) has been reported in female football players. This is of concern as problematic LEA may evolve into a syndromic pattern known as relative energy deficiency in sport (REDs). Given the difficulties in accurately assessing LEA, our study shifts emphasis to measurable indicators of REDs, serving as proxies for health detriments caused by LEA. The present cross-sectional study aimed to quantify the risk of REDs and to assess the prevalence of indicators indicative of the syndrome. 60 players (tiers 3 and 4) from three Norwegian football teams were analyzed as a single cohort but also stratified based on player position and menstrual status. The proportion of players at risk for REDs was 22%, that is, 17% with mild, 3% with moderate to high, and 2% with very high/extreme risk, respectively. The majority of the cohort (71%) presented with no primary indicators, while 20%, 7%, and 2% presented with one, two, and three primary indicators, respectively. Regarding secondary indicators, 57% had none, 33% had one, and 10% had two indicators. For associated indicators, 30% had none, 42% had one, 18% had two, 8% had three, and 2% had four indicators. Player position did not affect the prevalence of REDs indicators. Among noncontraceptive users (n = 27), secondary amenorrhea (AME) was reported by 30%. These findings indicate that health and performance teams should prioritize universal health promoting strategies rather than selective or indicative strategies. Particularly, focus on nutritional periodization to secure sufficient energy availability, mitigating the risk of problematic LEA and REDs should be addressed.

Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report.

OBJECTIVES: Dihydropyrimidinase deficiency is a rare autosomal recessive disorder of the pyrimidine degradation pathway, with fewer than 40 patients published. Clinical findings are variable and some patients may remain asymptomatic. Global developmental delay and increased susceptibility to 5-fluorouracil are commonly reported. Here we present atrioventricular septal defect as a novel feature in dihydropyrimidinase deficiency. CASE PRESENTATION: A four-year-old male with global developmental delay, dysmorphic facies, autistic features and a history of seizures was diagnosed with dihydropyrimidinase deficiency based on strikingly elevated urinary dihydrouracil and dihydrothymine and a homozygous pathogenic nonsense variant in DPYS gene. He had a history of complete atrioventricular septal defect corrected surgically in infancy. CONCLUSIONS: This is the second report of congenital heart disease in dihydropyrimidinase deficiency, following a single patient with a ventricular septal defect. The rarity of the disease and the variability of the reported findings make it difficult to describe a disease-specific clinical phenotype. The mechanism of neurological and other systemic findings is unclear. Dihydropyrimidinase deficiency should be considered in patients with microcephaly, developmental delay, epilepsy and autistic traits. We suggest that congenital heart disease may also be a rare phenotypic feature.

Robust growth hormone responses to GH-releasing peptide 2 in adolescents.

OBJECTIVES: GH-releasing peptide-2 (GHRP2) can be used for provocative growth hormone testing (GHT). Since it acts as a powerful stimulus for GH secretion, cut-off peak GH level in GHRP2 loading test (GHRP2T) is higher than in other GHT. Nevertheless, data on response at adolescents are limited. This report aimed to investigate peak GH levels in GHRP2T in adolescents. METHODS: Clinical data of adolescents after onset of puberty who underwent GHRP2T at our institution from May 2010 to March 2023 were collected retrospectively. Subjects were classified into three groups according to underlying diseases. RESULTS: Total 23 patients were included: 12 in organic or genetic GHD (o/gGHD) group, three in idiopathic GHD (iGHD) group, and eight in short stature (SS) group. The median GH peak levels were 3.4 ng/mL in o/gGHD group, 88.9 ng/mL in iGHD group, and 90.1 ng/mL in SS group, indicating a robust response of GH peak levels in iGHD and SS groups. Two patients exceeded the cut-off for GHRP2T but below for other GHT, indicating the current cut-off for GHRP2T may miss some GHD patients. CONCLUSIONS: The GH response to GHRP2T in adolescents except the o/gGHD group may be robustly responsive. For the correct diagnosis of GHD, the cut-off peak GH levels in GHRP2T in adolescents may require revisiting.

Thiamine deficiency in diabetes, obesity and bariatric surgery: Recipes for diabetic ketoacidosis.

Diabetic ketoacidosis (DKA) is a life-threatening condition affecting individuals with diabetes characterised by hyperglycaemia, metabolic acidosis and ketonemia. The incidence and financial burden of DKA is still high. Thiamine deficiency is well documented in patients with DKA and could be associated with cardiac dysfunction in those patients. Thiamine deficiency leads to cardiac dysfunction, neuronal death and worsens the prognosis of DKA. There is an existing metabolic relationship between thiamine deficiency in diabetes, obesity and bariatric surgery. Careful monitoring of thiamine, along with other vitamins, is essential for diabetic patients, obese individuals and postbariatric surgery. Further research and clinical studies are urgently needed to assess the following: (1) Whether diabetes, obesity and bariatric surgery make individuals more prone to have DKA related to thiamine deficiency and (2) Whether supplementation of thiamine can protect diabetic patients, obese subjects and individuals undergoing bariatric surgery from DKA. This review summarises the biochemistry of thiamine and the existing metabolic relationships between thiamine deficiency in DKA, diabetes, obesity and bariatric surgery. Primary and family physicians have an important role in ensuring adequate replacement of thiamine in individuals with diabetes, obesity and bariatric surgery.

Association of Severe Vitamin D Deficiency with Hospitalization in the Previous Year in Hospitalized Exacerbated COPD Patients.

Purpose: Vitamin D deficiency (VDD, 25-hydroxyvitamin D < 20 ng/mL) has been reported associated with exacerbation of chronic obstructive pulmonary disease (COPD) but sometimes controversial. Research on severe vitamin D deficiency (SVDD, 25-hydroxyvitamin D < 10 ng/mL) in exacerbation of COPD is limited. Patients and Methods: We performed a retrospective observational study in 134 hospitalized exacerbated COPD patients. 25-hydroxyvitamin D was modeled as a continuous or dichotomized (cutoff value: 10 or 20 ng/mL) variable to evaluate the association of SVDD with hospitalization in the previous year. Receiver operator characteristic (ROC) analysis was performed to find the optimal cut-off value of 25-hydroxyvitamin D. Results: In total 23% of the patients had SVDD. SVDD was more prevalent in women, and SVDD group tended to have lower blood eosinophils counts. 25-hydroxyvitamin D level was significantly lower in patients who were hospitalized in the previous year (13.6 vs 16.7 ng/mL, P = 0.044), and the prevalence of SVDD was higher (38.0% vs 14.3%, P = 0.002). SVDD was independently associated with hospitalization in the previous year [odds ratio (OR) 4.34, 95% CI 1.61-11.72, P = 0.004] in hospitalized exacerbated COPD patients, whereas continuous 25-hydroxyvitamin D and VDD were not (P = 0.1, P = 0.9, separately). The ROC curve yielded an area under the curve of 0.60 (95% CI 0.50-0.71) with an optimal 25-hydroxyvitamin D cutoff of 10.4 ng/mL. Conclusion: SVDD probably showed a more stable association with hospitalization in the previous year in hospitalized exacerbated COPD patients. Reasons for lower eosinophil counts in SVDD group needed further exploration.

Multidisciplinary rehabilitation following recreational nitrous oxide (N2O) misuse: evaluating service provision and rehabilitation outcomes in a cohort with serious disability.

Purpose: Recreational nitrous oxide (N2O) misuse is increasing globally. Chronic misuse can cause neurological impairments that require rehabilitation, though literature characterising rehabilitation is limited. This study aimed to evaluate rehabilitation service provision for impairments resulting from N2O misuse. Methods: A retrospective audit of hospitalised patients referred for rehabilitation for N2O toxicity was conducted between 2015 and 2022 at a single metropolitan hospital. Data were collected via medical record audit and analysed via descriptive and non-parametric statistics. Results: 16 eligible cases were identified, aged 18-43 years (50% female/male), with increasing case frequency. 12 cases received inpatient rehabilitation episodes for multifactorial sensorimotor, cognitive and psychosocial impairments. Cases articulated diverse rehabilitation goals and received intervention from a median of 6 clinical disciplines. All cases required assistance to mobilise or perform self-care activities on admission. Functional Independence Measure (FIM) scores significantly improved with rehabilitation (median FIM 84[75-93] to 117[112-123], p < .001). Despite gains in independence, all cases required referral for ongoing rehabilitation post-discharge. Conclusions: Demand for inpatient rehabilitation for disabling N2O toxicity appears to be increasing. In this series, cases were young, exhibited serious impairments, and had multidisciplinary rehabilitation needs. Inpatient rehabilitation led to significant functional improvements, though ongoing disability was evident post-discharge.

There appears to be rising demand for multidisciplinary rehabilitation to manage neurological disabilities from recreational Nitrous Oxide (N₂O) misuse.Heavy N₂O misuse can cause serious impairments and activity limitations across sensorimotor, cognitive and psychosocial domains.Intensive, multidisciplinary rehabilitation can improve functional independence for people with disabling N₂O toxicity; specialist rehabilitation services should be involved in optimising care of this population.Ongoing disability and the need for longer-term rehabilitation and support following hospital discharge were evident in severe cases of N₂O toxicity.

Real world management of individuals with severe FXI deficiency and its impact on clinical outcomes: Experience from a haemophilia treatment centre.

INTRODUCTION: The management of Factor XI deficiency is challenged by a variable association between FXI level and bleeding phenotype. Additionally, there is scarce data describing management strategies and their outcomes, specifically bleeding, thrombosis, and other complications. AIMS: To evaluate bleeding, thrombosis, and other complications in individuals with severe FXI deficiency seen in our comprehensive haemophilia treatment centre (HTC). Peri-procedural management strategies and the resulting impact on bleeding and other clinically relevant outcomes were reported. METHODS: Retrospective review of the electronic medical record of adult patients with severe FXI deficiency (< 20% activity) seen at a New York City comprehensive HTC between 2017 and 2022. Procedures, haemostatic management, and outcomes were collected and analysed. RESULTS: We identified 38 individuals (64%) females with severe FXI deficiency. The mean age was 56 ± 21 years (SD). The median FXI activity level was 3% (IQR: 1-8%). The mean BAT score was 3.1 ± 2.4; (52%) individuals did not have a history of bleeding. A total of 256 surgeries and procedures were performed. There was reduced bleeding with preventative or reactive treatment during procedures. Arterial but not venous thrombotic complications were observed. Plasma was mostly used for procedures associated with higher risk of bleeding and antifibrinolytics for procedures at sites of high fibrinolysis. CONCLUSIONS: Current management strategies pose a burden of care for these patients and manifested as nonbleeding adverse events and changes in clinical management. These findings highlight the need for novel investigation in predicting and managing bleeding for individuals with severe FXI deficiency.

Update on iron supplementation in patients with cancer-related anemia.

INTRODUCTION: Numerous clinical trials affirm the efficacy and safety of IV iron to treat cancer-related anemia (CRA). Nonetheless, evaluation and treatment of CRA remains suboptimal. AREAS COVERED: This review summarizes CRA therapy with a focus on iron deficiency and its treatment. The literature search was conducted using the National Library of Medicine (PubMed) database from 2004 to 2024. Topics reviewed include CRA pathophysiology, laboratory diagnosis of iron deficiency, a summary of clinical trial results using IV iron to treat CRA, and safety aspects. EXPERT OPINION: Despite overwhelming positive efficacy and safety data, IV iron remains underutilized to treat CRA. This is likely due to persistent (unfounded) concerns about IV iron safety and lack of physician awareness of newer clinical trial data. This leads to poor patient quality of life and patient exposure to anemia treatments that have greater safety risks than IV iron. Solutions to this problem include increased educational efforts and considering alternative treatment models in which other providers separately manage CRA. The recent availability of new oral iron therapy products that are effective in treating anemia of inflammation has the potential to dramatically simplify the treatment of CRA.

The global burden, trends, and inequalities of individuals with developmental and intellectual disabilities attributable to iodine deficiency from 1990 to 2019 and its prediction up to 2030.

Objective: The objective of this study was to assess the global burden of disease for developmental and intellectual disabilities caused by iodine deficiency from 1990 to 2019. Methods: Using data from the global burden of disease (GBD) 2019, we conducted a cross-country inequity analysis to examine the worldwide burden of developmental and intellectual disabilities caused by the issue of iodine deficiency from 1990 to 2019. Absolute and relative inequality were assessed by the slope index of inequality and the concentration index, respectively. After summarising the latest evidence, we also projected the age-standardized prevalence and years lived with disability (YLD) rates up to 2030 using the BAPC and INLA packages in R statistical software. Results: In 2019, the global age-standardized prevalence and YLD rates for developmental and intellectual disabilities due to iodine deficiency were 22.54 per 100,000 population (95% UI 14.47 to 29.23) and 4.12 per 100,000 population (95% UI 2.25 to 6.4), respectively. From 1990 to 2019, the age-standardized prevalence and YLD rates of developmental and intellectual disabilities due to iodine deficiency decreased significantly. Geographic distribution showed that areas with lower socio-demographic indices (SDI) were the most affected. The correlation between higher SDI and lower prevalence highlights the role of economic and social factors in the prevalence of the disease. Cross-national inequity analysis shows that disparities persist despite improvements in health inequalities. In addition, projections suggest that the disease burden may decline until 2030. Conclusion: This research underscores the necessity for targeted interventions, such as enhancing iodine supplementation and nutritional education, especially in areas with lower SDI. We aim to provide a foundation for policymakers further to research effective preventative and potential alternative treatment strategies.

Variable Expression Common Immune Deficiency: A Report of Five Cases.

We present five cases of common variable immunodeficiency (CVID), comprising three women and two men with a mean age of 23.8 ± 9.2 years. All our patients suffered from recurrent bronchopneumonitis, with complications of purulent pleurisy in two cases, requiring decortication in one case, and resulting in bronchiectasis in three cases. Digestive tract infections were observed in four patients, while two patients presented with ENT infections. One case was complicated by bacterial meningitis. All patients presented with global hypogammaglobulinemia, with CVID and granulomatous manifestation in one case. Treatment consisted of monthly immunoglobulin infusions.

An Unusual Mimic of Axial Spondyloarthritis: A Case Report.

Axial spondyloarthritis (SpA) is a chronic inflammatory condition predominantly affecting the sacroiliac joints and spine, typically presenting before the age of 45 years with inflammatory back pain. However, diagnostic challenges arise when atypical features and negative autoimmune markers obscure the clinical picture. We present a case of a male in his 40s with no significant medical history, presenting with a three-month history of inflammatory back pain. Despite negative human leukocyte antigen B27 (HLA-B27) status, clinical examination, including positive findings on the FABER (flexion, abduction, and external rotation) test and exaggerated muscle tenderness, raised suspicion of axial SpA. An MRI of the pelvis confirmed bilateral symmetrical sacroiliitis, supporting the diagnosis. Unexpectedly, further investigations revealed a very low vitamin D level, normal calcium levels, and elevated parathyroid hormone (PTH), suggesting secondary hyperparathyroidism. A subsequent PET scan disclosed increased uptake posterior to the right lobe of the thyroid, prompting consideration of secondary hyperparathyroidism due to severe vitamin D deficiency. Treatment with vitamin D supplementation and nonsteroidal anti-inflammatory drugs yielded remarkable improvement in symptoms, with normal repeat blood investigations post-treatment. This case underscores the importance of a comprehensive diagnostic approach in patients with inflammatory back pain, especially when classical markers such as HLA-B27 are negative. It highlights the potential interplay between axial SpA and secondary hyperparathyroidism, emphasizing the need for vigilance and interdisciplinary collaboration in clinical practice.

Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial.

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes. Children (2-19 years) with genetically confirmed CDD and ≥ 16 major motor seizures per month were enrolled in a double-blind randomized placebo-controlled trial. Ganaxolone or placebo was administered three times daily for 17 weeks. Behaviour was measured with the Anxiety, Depression and Mood Scale (ADAMS), daytime sleepiness with the Child Health Sleep Questionnaire, and quality of life with the Quality of Life Inventory-Disability (QI-Disability) scale. Scores were compared using ANOVA, adjusted for age, sex, number of anti-seizure mediations, baseline 28-day major motor seizure frequency, baseline developmental skills, and behaviour, sleep or quality of life scores. 101 children with CDD (39 clinical sites, 8 countries) were randomized. Median (IQR) age was 6 (3-10) years, 79.2 % were female, and 50 received ganaxolone. After 17 weeks of treatment, Manic/Hyperactive scores (mean difference 1.27, 95%CI -2.38,-0.16) and Compulsive Behaviour scores (mean difference 0.58, 95%CI -1.14,-0.01) were lower (improved) in the ganaxolone group compared with the placebo group. Daytime sleepiness scores were similar between groups. The total change in QOL score for children in the ganaxolone group was 2.6 points (95%CI -1.74,7.02) higher (improved) than in the placebo group but without statistical significance. Along with better seizure control, children who received ganaxolone had improved behavioural scores in select domains compared to placebo.

A retrospective study of the management and outcomes of pregnancies with inherited antithrombin deficiency.

INTRODUCTION: Antithrombin (AT) deficiency is a rare but highly thrombogenic inherited thrombophilia. Its association with adverse pregnancy outcomes (APO) is undefined. There is limited guidance on managing AT deficiency in pregnancy. Some significant issues remain controversial, including risk assessment for prophylactic anticoagulation, anticoagulant therapy, and monitoring. Our goal was to examine if the antepartum management of patients with AT deficiency affected their pregnancy outcomes. MATERIALS AND METHODS: This retrospective, single-center observational study included pregnant women with inherited AT deficiency in Peking Union Medical College Hospital between 2013 and 2024. RESULTS: Seventeen pregnancies in 6 women with AT deficiency were identified. A total of 7 pregnancies received adjusted-dose low-molecular-weight heparin (LMWH) and were monitored by anti-Xa level, AT activity, and D-dimer. There were 5 live births (all received LMWH), 7 second-trimester abortions (1 received LMWH), and 5 early pregnancy losses (1 received LMWH). There were 5 abruptio placentae events (3 received LMWH) and 7 thrombotic events (2 received LMWH). CONCLUSIONS: AT deficiency is at least an important partial factor contributing to APO. It is suggested to make a full assessment of AT patients both for venous thrombus embolism and APO risk. We observed a high prevalence of heparin resistance and a positive correlation between adequate anticoagulation and pregnancy outcome based on tight monitoring with anti-Xa level and timely adjustment of the LMWH dosage.

Screening for primary immune deficiency among patients with bronchiectasis.

INTRODUCTION: To assess frequency and methods of PID (primary immune deficiency) screening among patients with bronchiectasis by pneumologists in clinical practice. METHODS: All the patients hospitalized in the department of pneumology of the Poitiers University Hospital between April 2013 and April 2020 with a diagnosis of bronchiectasis on chest computerized tomography were included. Patients aged 70 and over and those with already known PID were excluded. Primary endpoint was the proportion of patients having had serum immunoglobulin (Ig) assay and serum protein electrophoresis (SPE) analysis. Secondary endpoints were factors associated with prescription of SPE and/or Ig assay, proportion of patients with newly diagnosed PID and their characteristics and factors associated with repeated courses of antibiotics. RESULTS: Among the 133 patients included, 43% had SPE+Ig assay, 34% SPE only and 23% neither. The proportion of patients with asthma was higher in the "SPE+Ig assay" group (33.3%) compared to the "SPE only" (11.1%) and the "Neither SPE nor Ig assay" groups (6.4%) (P=0.002). Four patients were newly diagnosed for PID of whom 3 had subclass IgG deficiency. Factors associated with repeated courses of antibiotics were generalized bronchiectasis (P=0.02) and asthma (P=0.04). CONCLUSION: PID is underscreened by pneumologists among patients with bronchiectasis. Association of SPE+Ig assay+IgG subclass assay appears as the most accurate combination.

Relationship between histopathological findings of patients with dermatochalasis and vitamin D deficiency.

PURPOSE: To compare the histopathological findings of patients who had been diagnosed with dermatochalasis (DC) and had undergone upper eyelid blepharoplasty (ULB) as well as those of controls (C-Group) according to their serum vitamin D (SVD) levels. METHODS: The prospective study included 136 upper eyelid skin from 68 patients who underwent surgery for DC and 53 upper eyelid skin from 53 patients who underwent levator surgery with ULB. The DC Group was then divided into 3 subgroups according to the marginal reflex distance (MRD4). The lymphatic vessel (LV) count and diameter of the largest LV (DLLV) were recorded, the stromal collagen bed (SCB) was observed, and its depth was measured, the interfibrillar edema was examined, and the elastic fiber and macrophage counts and recorded, respectively, and then all of these were evaluated. The SVD levels were compared between the DC patients and the C-Group. RESULTS: In comparison to the C-Group, significant changes were seen in the dilated LV, DLLV, SCB depth, interfibrillar edema, elastic fiber density, and macrophage count in the DC sub-Groups (P < 0.001 for all). While no difference was found between DC sub-Group 1 (MRD4 > 4 mm) and the C-Group (P > 0.05), a significant difference was found between DC sub-Group 2 (MRD4 2-4 mm) and DC sub-Group 3 (MRD4 < 2 mm) for all of the parameters (P < 0.05). A statistically significant difference was also found in the SVD levels between the DC sub-Group 1 and DC sub-Groups 2-3 (P < 0.017, P < 0.001 respectively). CONCLUSION: According to the results of this study, SVD level was significantly lower in DC group. Moreover, an increased LV count and diameter, decreased elastic fiber count, collagen fiber and stromal edema irregularity, and increased macrophage count were found to be associated with the SVD level.

Recovery of muscular tissue and functional results of patients treated with a gluteus maximus flap transfer due to chronic abductor deficiency after total hip arthroplasty.

BACKGROUND: To evaluate the function of the abductor mechanism after a gluteus maximus flap transfer due to a degeneration of the muscles after hip arthroplasty, we analyzed the post-operative functional outcome as well as radiographic effects in muscle tissue. METHODS: This present study included six consecutive patients operatively treated with a gluteus maximus flap due to chronic gluteal deficiency after total hip arthroplasty. All patients presented a preoperative severe limp, hip abductor deficiency and a history of conservative treatment without the relief of symptoms. MRI scans were performed pre- and postoperatively to evaluate the muscle volume and grade of degeneration of the abductor mechanism. For clinical evaluation, the Harris hip score (HHS) was applied pre- and postoperatively. Moreover, the intensity of pain, the Trendelenburg sign, the internal rotation lag sign and the abductor muscle force were measured before and after surgery. RESULTS: Overall, the evaluation of the Magnetic Resonance Imaging (MRI) showed no significant changes in total muscle volume during the follow-up period. Separate measurements presented a significant growth of muscle volume for the gluteus minimus and tensor fascia lata compared to preoperative imaging during the follow-up period. The amount of fat volume decreased for all the measured muscles with statistical significance for the gluteus minimus, the gluteus medius and the tensor fascia lata. No further muscle degeneration and no flap necrosis were measured. The postoperative HHS results were not statistically significant compared to the preoperative results. CONCLUSIONS: Besides fair clinical results, the radiological measurements indicate that the flap transfer enables functional muscular tissue recovery and prevents further degeneration. Given these conditions, the gluteus maximus muscle flap transfer represents a viable treatment option for patients with chronic gluteal deficiency in selected patients.

Deletion of KS-WNK1 promotes NCC activation by increasing WNK1/4 abundance.

Dietary potassium deficiency causes stimulation of sodium reabsorption leading to increased risk in blood pressure elevation. The distal convoluted tubule is the main rheostat linking plasma K+ levels to the activity of the Na-Cl cotransporter (NCC). This occurs through basolateral membrane potential sensing by Kir4.1/5.1; decrease in intracellular Cl-; activation of WNK4, interaction and phosphorylation of Ste20/SPS1-related Proline/Alanine-rich Kinase (SPAK); binding of the calcium-binding protein 39 (cab39) adaptor protein to SPAK leading to its trafficking to the apical membrane; and SPAK binding, phosphorylating, and activating NCC. As Kidney-Specific With-No-Lysine (K) Kinase 1 (WNK1) isoform (KS-WNK1) is another participant in this pathway, we examined its function in NCC regulation. We eliminated KS-WNK1 specifically in the DCT and demonstrated increased expression of WNK4 and L-WNK1 and increased phosphorylation of NCC. As in other KS-WNK1 models, the mice are not hyperkalemic. While wild-type mice under low dietary K+ conditions demonstrated increased NCC phosphorylation, the phosphorylation levels of the transporter, already high in the KS-WNK1, did not change under the low K+ diet. Thus, in the absence of KS-WNK1 the transporter has lost its sensitivity to low plasma K+. We also show that under low K+ conditions, in the absence of KS-WNK1, there is no formation of WNK bodies. These bodies are observed in adjacent segments, not affected by the targeting of KS-WNK1. As our data are overall consistent with those of the global KS-WNK1 knockout, they indicate that the DCT is the predominant segment affecting the salt transport regulated by KS-WNK1.

Iron deficiency and supplementation in patients with heart failure: Results from the IRON-HF international survey.

AIMS: Iron deficiency (ID) is common in patients with heart failure (HF) and is associated with poor outcomes, regardless of anaemia status. Iron supplementation has been demonstrated to improve exercise capacity and quality of life in patients with HF with an ejection fraction <50% and ID. This survey aimed to provide data on real-world practices related to ID screening and management. METHODS AND RESULTS: We designed and distributed an online survey (23 questions) regarding ID screening and management in the HF setting. Overall, 256 cardiologists completed the survey (59.8% male, mostly between 30 and 50 years). The majority of physicians defined ID according to the most recent HF recommendations (98.4%) and reported screening for ID in more than half of their patients (68.4%). However, only 54.3% of the respondents performed periodic screening (every 6 months to 1 year). A total of 93.0% of participants prescribed and/or administered iron supplementation, using intravenous iron as the preferred method of administration (86.3%). After iron supplementation, 96.1% of the respondents reassessed ID, most frequently at 3-6 months (67.6%). Most physicians (93.8%) perceived ID as an underestimated comorbidity in HF. Cardiologists' age, training status, subspecialty and work setting (academic vs. non-academic hospitals) were associated with heterogeneity in the answers. CONCLUSIONS: The results of this survey highlight the need for more consistent strategies of ID screening and treatment for patients with HF.