Ischemic cerebrovascular complications with initial presentation of genetic atypical hemolytic uremic syndrome.

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare disease, with scarce reports of neurologic manifestations in the acute setting. Ischemic cortical infarcts concurrently with aHUS presentation have not been described in adult patients. CASE DESCRIPTION: A 46-year-old male presented with acutely declining mental status and progressive weakness, in the setting of longstanding hypertension and known type B aortic dissection. Urgent neuroimaging showed bilateral multifocal multiterritorial ischemic infarcts, concerning for an embolic source or hypercoagulable state. Systemic workup was notable for microangiopathic hemolytic anemia and acute kidney injury. Empiric plasmapheresis was initiated for presumed thrombotic thrombocytopenic purpura. Broad workup did not support such a diagnosis, and kidney biopsy showed findings compatible with aHUS. Additional blood testing showed increased complement pathway activity. Shiga toxin was negative, and overall clinical picture fit with aHUS as diagnosis. Treatment with complement inhibitor was started and patient gradually recovered. Genetic testing confirmed a pertinent pathogenic mutation, CFHR1 homozygous deletion. CONCLUSION: Acute multifocal multiterritorial ischemic infarcts and systemic thrombotic microangiopathy may be a manifestation of aHUS, and with associated genetic mutation, even in adult population.

Renal Genetics Clinic: 3-Year Experience in the Cleveland Clinic.

Rationale & Objective: There has been an increasing demand for the expertise provided by a renal genetics clinic. Such programs are limited in the United States and typically operate in a genomics research setting. Here we report a 3-year, real-world, single-center renal genetics clinic experience. Study Design: Retrospective cohort. Setting & Participants: Outpatient cases referred to the renal genetics clinic of the Cleveland Clinic between January 2019 and March 2022 were reviewed. Analytical Approach: Clinical and laboratory characteristics were analyzed. All genetic testing was performed in clinical labs. Results: 309 new patients referred from 15 specialties were evaluated, including 118 males and 191 females aged 35.1 ± 20.3 years. Glomerular diseases were the leading presentation followed by cystic kidney diseases, electrolyte disorders, congenital anomalies of kidneys and urinary tract, nephrolithiasis, and tubulointerstitial kidney diseases. Dysmorphic features were noted in 27 (8.7%) patients. Genetic testing was recommended in 292 (94.5%) patients including chromosomal microarray (8.9%), single-gene tests (19.5%), multigene panels (77.3%), and exome sequencing (17.5%). 80.5% of patients received insurance coverage for genetic testing. 45% (115/256) of patients had positive results, 25% (64/256) had variants of unknown significance, and 22.3% (57/256) had negative results. 43 distinct monogenic disorders were diagnosed. Family history of kidney disease was present in 52.8% of patients and associated with positive genetic findings (OR, 2.28; 95% CI, 1.40-3.74). 69% of patients with positive results received a new diagnosis and/or a change in the diagnosis. Among these, 39.7% (31/78) of patients received a significant change in disease management. Limitations: Retrospective and single-center study. Conclusions: The renal genetics clinic plays important roles in the diagnosis and management of patients with genetic kidney diseases. Multigene panels are the most frequently used testing modality with a high diagnostic yield. Family history of kidney disease is a strong indication for renal genetics clinic referral.

Conflicting Cultural and Religious Views on Cosmesis: The Modern Women's Dilemma.

BACKGROUND: Women from countries with conflicting views on cosmesis may avoid these procedures for the fear of being rejected by the community. Understanding the motives that drive patients from these countries to seek cosmetic procedures helps discern possible causes of postoperative dissatisfaction, which can be prevented by careful selection of patients and individualizing their management protocols. OBJECTIVES: This study helps identify the factors that affect Egyptian Muslim women's attitude toward cosmetic procedures. The main factors tested were female gender role stress (FGRS), body dysmorphic disorder (BDD), and religious attitude. The secondary factors investigated were health evaluation, life satisfaction, self-satisfaction, social media use, TV exposure, spouse/friends/family influence, and internalization of beauty standards. METHODS: Women willing to undergo cosmetic procedures were compared with those who were not. A survey exploring demographics and the different motives were posted for the public online. RESULTS: Among 502 participants, 288 were willing to undergo cosmetic procedures and 214 were not. Our findings showed a statistically significant difference for the degree of BDD, FGRS, and religiousness between willing and unwilling groups. Moreover, greater pressure from partner to change appearance, influence of friends and family on opinion regarding beauty of oneself, internalization of beauty standards, and lower ratings of life and self-satisfaction showed statistically significant association with willingness to undergo cosmetic treatment. CONCLUSION: BDD, FGRS, and religious attitude are among the highest predictors of the willingness of women to undergo cosmetic procedures together with many other factors. This study is the first of its kind to evaluate several unexplored motives and opens the door for future research. LEVEL OF EVIDENCE V: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Proton-pump inhibitor vs. H2-receptor blocker use and overall risk of CKD progression.

BACKGROUND: The relationship between proton-pump inhibitor (PPI) use and chronic kidney disease (CKD) progression remains controversial. Specifically, there is a lack of data evaluating renal outcomes in established CKD patients. The aim of our study is to determine the risk of progression to end-stage kidney disease (ESKD) or death amongst CKD patients on PPI, histamine-2 receptor blocker (H2B), or no anti-acid therapy. METHODS: Using our CKD registry, we evaluated the relationship between PPI and H2B use and outcomes amongst patients with CKD (eGFR < 60), with at least 2 PCP visits in the year prior. A Cox proportional hazards model was used to evaluate the relationship between medication groups and overall mortality, while competing risks regression models were used to determine the risk of ESKD with death as a competing risk. RESULTS: 25,455 patients met inclusion criteria and were stratified according to medication group: no antacid therapy (15,961), PPI use (8646), or H2B use (848). At 4 years, the cumulative incidence of ESKD with death as a competing risk was 2.0% (95% CI: 1.7, 2.4), 1.5% (0.8, 2.8), and 1.6%(1.4, 1.9) among PPI, H2B, and no medication respectively (P = 0.22). The cumulative incidence of death with ESKD as a competing risk was 17.6% (95% CI: 16.6, 18.6), 16.7% (13.7, 19.8), and 17.3% (16.6, 18.0) (P = 0.71). CONCLUSIONS: Use of PPI in a CKD population was not associated with increased mortality or progression to ESKD when compared to H2 blocker and to no acid suppressing therapy.

Prevalence of Cardiovascular and Renal Co-morbidities in Patients with Type 2 Diabetes in the Gulf, a Cross-sectional Observational Study.

INTRODUCTION: Understanding comorbid conditions with type 2 diabetes mellitus (T2DM) is critical for clinical decision-making regarding the choice of pharmacotherapy. This study aimed at describing the prevalence and co-prevalence of comorbidities, including chronic kidney disease (CKD) and cardiovascular disease (CVD) (coronary artery disease (CAD), cerebrovascular disease, peripheral arterial disease (PAD) and congestive heart failure (CHF)) among patients with T2DM. METHODS: A cross-sectional multi-center observational study on 300 patients with T2DM. Data were collected from patients' records during the enrollment visit. RESULTS: Overall, 38%, 10% and 2% of the patients had one, two and three comorbidities, respectively, with the number of comorbidities significantly increasing with age. The most prevalent comorbidities were CVD (17.3%), CAD (15%) and CKD (44.3%), mostly stages 2 and 3. However, the prevalence of  CHF (0.7%),  PAD (2.3%) and cerebrovascular diseases (1.3%) was low. The highest percentage of anti-hyperglycemic agents used was metformin (81%), dipeptidyl peptidase-4 inhibitors (46%), sodium-glucose co-transporter 2 inhibitors (37%), insulin (36%) and sulfonylurea (34%). The choice of the anti-hyperglycemic class did not change across age groups and gender. CONCLUSION: Half of the patients had T2DM only. The most prevalent comorbidity found was CKD, mainly stage 2. The comorbidity burden tended to increase significantly in older age groups.

Massive Localized Abdominal Lymphedema Treatment Challenges.

Massive localized lymphedema of the abdomen is a rare condition resulting from a neglected lower abdominal pannus associated with significant disability and morbidity. Compared to other surgical procedures, postbariatric surgery is usually considered a financial drain. In the United Kingdom, this requires National Health Service approval and delays may lead to sequelae that adversely impact on patients' quality of life with increased morbidity. We present a wheelchair-bound patient whose body mass index increased from 53 to 82, while awaiting funding approval increasing her anesthetic and surgical risks. A multidisciplinary approach is mandatory for preoperative, intraoperative, and postoperative care for these patients including anesthetic input and high dependency unit care. Managing this patient was a significant anesthetic and surgical challenge with 47-kg resected tissue. The planning and perioperative measures to minimize morbidity are discussed.

Pedicled local flaps: a reliable reconstructive tool for partial breast defects.

BACKGROUND: Breast conserving surgery (BCS) followed by radiotherapy has gained great popularity in the treatment of breast cancer over the past years. However, radiation therapy can lead to many unfavourable aesthetic outcomes including significant volume/skin deficiency, nipple areola complex distortion and skin contraction. We present our experience in using pedicled perforator flaps to tackle the resultant partial breast defects or deformities. METHODS: A retrospective data analysis study on Thirty patients with post breast conserving surgery (BCS) partial breast defects who were managed with pedicled per-forator flaps including muscle sparing latissimus dorsi muscle flap (MSLD), thoraco-dorsal artery perforator flap (TDAP) and intercostal artery perforator flap (ICAP) in the period between December 2008 and December 2018. RESULTS: Defects were in all quadrants apart from the upper inner quadrant. The reconstructive techniques included TDAP flap 6/30 (20%), MSLD flap 20/30 (66.7%), AICAP flap 4/30 (13.3%). Age ranges 22-35 (mean 29). All flaps showed complete survival, one nipple areola complex superficial epidermolysis was experienced, and one patient presented with fat necrosis. No resultant donor site morbidity apart from scar revision for excess skin at the axillary fold in one patient. The overall satisfaction reached 94% with only 8 patients who required lipofilling to maximize the cosmetic outcome. CONCLUSIONS: The availability of a range of reliable techniques including thoracodorsal/intercostal artery perforator flap (TAP/ICAP) and muscle sparing lattissimus dorsi flap (MSLD) allow optimum results to be achieved in the treatment of partial breast defects following breast conserving surgery.

Nipple-Sparing Mastectomy and Prepectoral Implant/Acellular Dermal Matrix Wrap Reconstruction in Large Ptotic Breasts.

Nipple-sparing mastectomy (NSM) with simultaneous prepectoral direct to implant reconstruction and acellular dermal matrix (ADM) is increasingly offered to patients opting for prophylactic or therapeutic mastectomies. The recent introduction of prepectoral implant/ADM in the armamentarium of breast reconstruction has proven to reduce pain and animation deformity. Despite this promising method, patients with macromastia and ptotic breasts remain a challenging group to treat. More often they would require secondary corrective procedures and can experience high failure rate and unsatisfactory outcomes. The authors present their experience in utilizing a bipedicled nipple-areola complex dermal flap through Wise pattern to achieve a successful NSM with prepectoral implant/ADM (Braxon) wrap (IBW) as a single stage in patients with large ptotic breasts. Patients seeking NSM with large ptotic breasts were included in the study in the period between 2016 and 2018. They were offered a single-stage Wise pattern NSM and immediate prepectoral IBW breast reconstruction. The technique and outcomes were recorded. Sixteen reconstructions were performed in 8 women with a median age of 32 years (range, 27-50 years) and a median body mass index of 32 kg/m2 (range, 29-39 kg/m2). The resected breasts weight ranged from 750 to 1,600 g (median, 890 g). All procedures were completed successfully with no nipple-areola complex necrosis or failure experienced during the follow-up period (range, 3-24 months) with all patients reported excellent satisfaction. The authors' results demonstrate that this technique could be safely planned for NSM in large ptotic breasts with excellent durable outcomes.

Intra-Arterial versus Intravenous Contrast and Renal Injury in Chronic Kidney Disease: A Propensity-Matched Analysis.

BACKGROUND/AIMS: contrast-induced nephropathy (CIN) is well described following an administration of intraarterial contrast, but its occurrence after intravenous (IV) contrast is being questioned. We evaluated the incidence of acute kidney injury (AKI), post-contrast AKI (PC-AKI), CIN, dialysis and mortality in patients with chronic kidney disease (CKD) undergoing non-contrast computed tomography (NCCT) or contrast CT (CCT) or coronary angiography (CoA). METHODS: We identified individuals who had CoA or CCT or NCCT between 2010 and 2015 in the Cleveland Clinic CKD registry. We used propensity scores to match patients in the 3 groups. We evaluated the proportion of patients that developed AKI and CIN across the groups with chi-square tests. We generated Kaplan-Meier plots comparing mortality and ESRD among patients who developed AKI (in the NCCT group), PC (multifactorial AKI, CIN) AKI and no AKI. RESULTS: Out of 251 eligible patients, 200 who had CoA were matched to each of the other CT scan groups. The incidence of AKI was 27% in CoA, 24% in CCT and 24% in NCCT (p = 0.72). The incidence of CIN AKI was 16.5% in CoA and 12.5% in CCT (p = 0.26). The Kaplan-Meier survival at 2 years was 74.8 (95% CI 63.8-87.7) for those with CIN and 53.2 (95% CI 39.7-71.4) for those with multifactorial AKI and 56.5 (95% CI 43.4-73.6) for those with AKI-NCCT and 71.4 (95% CI 67.2-76.0) for those without AKI. The Kaplan-Meier ESRD-free estimates at 2 years were 89.9 (95% CI 80.8-100) for those with CIN and 89.4 (95% CI 78.7-100) for those with multifactorial AKI and 77.4 (95% CI 63.6-94.3) for those with AKI-NCCT and 94.4 (95% CI 91.9-97.1) for those without AKI. CONCLUSION: The administration of both IV and intra-arterial contrast is associated with a risk of AKI. Multifactorial AKI was associated with worse outcomes, while CIN was associated with better outcomes.

Supero-medial reduction mammaplasty: a safe and reliable technique in gigantomastia and severe breast ptosis.

Reduction mammaplasty in huge breasts poses a great challenge for plastic surgeons. The classic technique is free nipple and areola grafting after breast amputation. This paper is a short technical report of reduction mammoplasty on 40 patients with severe breast ptosis (suprasternal notch to nipple >35 cm) and giganticomastia (anticipated resection of more than 1 kg per breast) were operated upon using superomedial pedicle technique for reduction mammaplasty. All patients were satisfied with their results aesthetically, and showed relief in their neck pain. There were no cases of total nipple-areola loss. In one breast, the nipple-areolar complex (NAC) was congested intra-operatively and free nipple grafting was done. The NAC sensation was preserved in 36 cases, and all other complications were minimal and self-limiting. The superomedial pedicle technique has proven to be a safe and reliable method for reduction mammaplasty in huge breasts. Compared to the classic free nipple and areola technique, this method showed promising results in preserving the nipple sensation and giving more pleasant natural projecting breasts.

Chest Wall Reconstruction with Porcine Acellular Dermal Matrix (Strattice) and Autologous Tissue Transfer for High Risk Patients with Chest Wall Tumors.

BACKGROUND: Tenets of chest wall reconstruction for malignancy are well known; however, the insertion of synthetic prosthetic material to achieve rigid and nonrigid skeletal reconstruction could be associated with more complications including infection and extrusion especially in high risk patients. This includes fungating, infected tumors, previous radiotherapy, scars, smoking, diabetes, and morbid obesity. Bioprosthesis Acelluar Dermal Matrix Strattice would be a substitute to resist infection and provide stable coverage. METHODS: A retrospective data analysis study on 8 high-risk patients who underwent chest wall resection and reconstruction with bioprosthesis (Strattice) with/without titanium plates in the period between 2012 and 2017 was performed. Patient's demographics, risk factors, clinico-pathological, radiological, operative details, adjuvant therapy, postoperative morbidity, and follow-up data were recorded. RESULTS: Sarcoma was the pathology in 7 and recurrent breast cancer in 1 with age range from 21 to 71 years (mean, 50) and preponderance of female patients (n = 5). Defects were located anterior/anterolateral with size ranging from 270 to 1,050 cm2 (mean, 511). Reconstruction was performed using Strattice only in 4 patients, whereas in 4 it was combined with titanium plates. All patients required flap reconstruction (3 pedicled and 5 free). The follow-up ranged from 9 to 52 months (mean, 24.8). Minor complications occurred in 2 patients; however, good functional outcome was achieved in all. CONCLUSION: Strattice would act as a safe alternative modality for chest wall reconstruction to resist infection in high-risk patients with extensive defects. It should be considered as a valuable tool in the armamentarium of chest wall reconstruction.

Clinical safety of insulin detemir in patients with Type 2 diabetes in the Gulf countries: The multicenter, noninterventional, open-label LevSafe study.

AIM: To evaluate the safety profile of insulin detemir (IDet) in people with Type 2 diabetes mellitus (T2DM) in the Gulf countries in the 32-week, noninterventional LevSafe study. METHODS: People with T2DM whose physicians had opted to start IDet therapy were included in the study. Safety parameters, including serious adverse drug reactions (SADRs) and hypoglycemia, and changes in body weight and glycemic control were evaluated at baseline, week 16 and week 32. RESULTS: A total of 686 patients were exposed to IDet therapy with a mean (±standard deviation) age, body mass index, and diabetes duration of 51.3 ± 11.0 years, 31.3 ± 5.5 kg/m(2), and 10.2 ± 6.1 years, respectively. The mean total daily dose of IDet was 32.0 ± 32.8 U at baseline and 44.7 ± 60.7 U at week 32. No SADRs were reported during the study. Total hypoglycemia decreased from 435 events at baseline to 204 events at week 32 (mean change analyzed by Wilcoxon signed rank test: -0.34; P = 0.0115), and no major hypoglycemia was reported at week 32. Over the 32-week treatment period, the mean body weight decreased from 85.7 ± 15.2 kg to 85.4 ± 14.5 kg (P = 0.0203), glycated hemoglobin A1c from 9.9 ± 1.67% to 7.7 ± 1.36% (P < 0.0001), and fasting plasma glucose from 11.9 ± 3.27 mmol/L to 7.4 ± 1.85 mmol/L (P < 0.0001). CONCLUSION: IDet therapy was well-tolerated and was associated with a decreased number of hypoglycemic events and improved glycemic control after 32 weeks in patients with T2DM in the Gulf countries.