Polycystic Disease Research Articles

CORRELATION BETWEEN BMI AND GONADOTROPIN HORMONES IN THE FEMALE GENDER

Introduction: The pituitary gland affects growth and development. Its main function is in the activity of sexual/reproductive hormones and in the functioning of the glands (thyroid gland, adrenal glands and gonads). Gonadotropin hormones (gonadostimulins) are so named because they stimulate the function of the gonads - male and female sex glands (testicles and ovaries) in which sex cells - sperm and egg cells are created. Overweight is a state of metabolic disorders where excess body fat accumulates to the extent that it can negatively affect human health. Obesity as a BMI factor is related to the functioning of the thyroid gland with its hormones and the pituitary gland with gonadotropin hormones. Purpose of the study: This paper aims to present the correlation between BMI and gonadotropin hormones in reproductive and postmenopausal women. The aim of the paper will also consist in the status of gonadotropin hormones and the functional state of these hormones by comparing them with metabolic disorders such as BMI, obesity and the synthesis of follicle stimulating hormone and gonadotropin hormone. Material and method: A total of 20 patients will be included in the research, divided according to age group into two categories. The first group will include patients aged 10-40 years, the second group patients over 41 years old. Blood (serum) samples will be taken from patients for analyzing gonadotropin hormones: FSH, LH, PRL and thyroid hormones: TSH, FT4, FT3. They will be analyzed with the modern automatic fluorescent enzyme immunoassay method (Vidas-Biomerie). The BMI of the body will be measured with a metric formula where the weight of the patient (in kg) divided by the height of the patient (in m2) set to the square power will give us the measure of body index-BMI (%). SPSS – Software package version 20.0 Numerical series were analyzed using central tendency measures (average, median, minimum values, maximum values), as well as distribution measures (standard deviation); To determine the regularity of the frequency distribution of the examined variables, the Shapiro-Wilk W Test was used; Non-parametric tests for two independent parameters were used to test the significance and difference between some numerical parameters with irregular frequency distribution (Mann Whitney U test); To determine statistical significance, a two-way analysis was used with a significance level (means) of p<0.05. Results: The results of the research will give a real insight into the data of gonadotropic hormones FSH, LH, PRL and thyroid hormones TSH, FT4, FT3 of the female sex in the Tetova region. The results of the research will also provide information about the correlation of BMI and gonadotropin and thyroid hormones. Conclusion: From the analyzes performed on patients of different age groups we come to the conclusion that: • Gonadotropin hormonal disorders can lead to the phenomenon of metabolic diseases such as BMI. • These disorders can have consequences such as: polycystic ovary diseases in women, Hashimoto's genetic syndrome, Graves, infertility in women, etc.

Essential Herbal Plants for the Clinical Management of Polycystic Ovary Syndrome and Patents for the Same

Abstract: Polycystic Ovarian Syndrome (PCOS) is a hormonal disorder in females with excessive hormonal levels, but a reasonable cause is unknown. For PCOS, various pharmaceutical therapies have been offered, like oral contraceptive pills (which balance hormonal imbalances). PCOS is commonly used as an alternative to PCOD (Polycystic Ovary Disease). Although a part of the implicated mechanism in the occurrence of PCOS has been discovered, the specific etiology and pathophysiology are still unknown. Many types of complementary medicines are used to treat PCOD, and herbal medicines are one of them. Medical herbs have long been utilized to manage PCOS in women's gynecological and reproductive issues. This review article discusses the importance of herbal medicines and lifestyle modifications for PCOD patients. Many clinical studies proved that herbs like liquorice, cinnamon, Unkei-to, and fenugreek are helpful in PCOD management by improving hormone levels, ovulatory dysfunctions, obesity, and insulin resistance in the body. This review explores the natural plants that can be used to treat the disease naturally. The herbs can be used either alone or in combination.

Peribiliary cysts: uncommon mimickers of hepatic and biliary cystic lesions.

Peribiliary cysts (PC) are dilatations of the extramural peribiliary glands, with a very characteristic imaging pattern in the contexts of hepatobiliary diseases, idiopathic portal hypertension, adult-type polycystic disease of the liver and kidneys, solitary nonparasitic cysts, and systemic infections. The clinical relevance of PC is related to the fact that their presence may indicate underlying pathologies (such as those mentioned above) and may be considered as a potential marker of liver disease progression. Although imaging findings are quite characteristic, recognizing their main differential diagnoses, including malignancies, can be challenging but are essential to avoiding diagnostic errors.

Research Progress of Chinese and Western Medicine in Non-obese Polycystic Ovary Syndrome

In recent years, the number of patients with non-obese polycystic disease has gradually increased. Its clinical manifestations are different from those of obese polycystic disease, and the treatment should also be different from those of obese polycystic disease. This paper summarizes the endocrine and metabolic characteristics and TCM syndromes of non-obese PCOS patients in order to provide ideas for the systematic treatment of non-obese PCOS based on syndrome differentiation of traditional Chinese and Western medicine in the future.

Liver Transplantation for Benign Massive Hepatomegaly: Results From a Single Center and Contribution of the Left-to-Right Piggyback Approach

IntroductionPolycystic liver disease and giant hepatic hemangioma may present with severe symptom burden and indicate orthotopic liver transplantation. The left-to-right piggyback approach is a useful technique for performing total hepatectomy of enlarged livers. ObjectiveThe purpose of this study is to analyze the results of liver transplantation in patients with benign massive hepatomegaly. MethodsThis is a single-center retrospective study involving all adult patients who underwent liver transplantation due to benign massive hepatomegaly from January 2002 to June 2023. ResultsA total of 22 patients underwent liver transplantation (21 cases of polycystic live disease and 1 case of giant hepatic hemangioma). During the same time, there were 2075 transplants; therefore, benign massive hepatomegaly accounted for 1.06% of cases. Most patients (59.09%) were transplanted using the left-to-right piggyback technique. Seven patients had previous attempted treatment of hepatic cysts. Another patient previously underwent bilateral nephrectomy and living-donor kidney transplantation. Among these patients, in 5 cases there were massive abdominal adhesions with increased bleeding. Four of these 8 patients died in the very early perioperative period. In comparison to patients without previous cysts manipulation, massive adhesions and perioperative death were significantly higher in those cases (62.5 vs 0%, P = .002 and 50% vs 0%, P = .004, respectively). ConclusionLiver transplantation due to polycystic liver disease and giant hemangioma is a rare event. Total hepatectomy is challenging due to the enlarged native liver. The left-to-right piggyback technique is useful, because it avoids vena cava twisting and avulsion of its branches. Massive adhesions due to previous cysts manipulation may lead to increased bleeding, being a risk factor for mortality.

Genetic and radiological aspects of pediatric renal cystic disease: A case series

Renal cystic diseases are common conditions whose etiology can be highly heterogeneous. They require a correct approach for adequate diagnosis and management. We aimed to illustrate part of the spectrum of renal cystic diseases through some clinical cases managed in our service. We describe 11 clinical cases including clinical entities such as renal multicystic dysplasia, and autosomal dominant and autosomal recessive polycystic renal disease, among other pathologies. Renal cystic diseases are heterogeneous in their clinical presentation, natural history, radiological findings, and genetic and pathophysiological basis. An integral clinical approach is needed to get a clear etiological diagnosis and offer adequate individualized care and follow-up for patients.

#2316 Towards the new era of nephrology. What implications do genetic studies have on individuals with kidney disease?

Abstract Background and Aims The study of kidney disease (KD), including genetics, may involve a significant change in the management, treatment, and prognosis of the patient. Method Retrospective study assessing the impact of genetic studies (GS) requested by the nephrology department at Virgen Macarena Hospital over 43 months (June/2019 to December/2022). We analyze diagnoses before and after GS, as well as their impact. The sequencing platforms used include Illumina HiSeq-MiSeq-NovaSeq and Ion Torrent. Common databases consulted include ClinVar, RefSeq, Ensembl, NCBI, ExAC, aHUS, and BIER. Results A total of 118 patients with genetic studies (GS) were analyzed. The mean age was 45.2 ± 16, with 51% being male and 49% female. 78% had first and/or second-degree relatives with kidney disease, and in 43 cases (36%), no family history was known. The mean creatinine (Cr) was 1.9±2 mg/dl, glomerular filtration rate (GFR) was 67 ± 40 ml/min, and urine albumin/creatinine ratio (UAC) was 770 ± 1700 mg/g, with hematuria present in 57.6% of patients. A renal biopsy (RB) was performed in 32 patients (27%). The indications for genetic testing were as follows: extension of studies in biopsied nephropathy (20%), cystic kidney disease (29%), non-biopsiable or chronic kidney disease (21%), family history (33%), and for research or trial purposes (1%). In 22%, a study of a known familial mutation was conducted, while the remaining cases involved gene panel analysis. The pre-genetic diagnoses were as follows: 39% glomerular disease, 22% other conditions (suspected Alport and Fabry), 16% autosomal dominant polycystic kidney disease (ADPKD), 8% complement-associated pathology (CAP), 5% other cystic diseases, 4% tubulointerstitial nephropathies (TIN), 3% nephropathy of unknown origin, 2% diabetic nephropathy, and 2% nephroangiosclerosis. GS was positive in 76 patients (N = 76; 64%). Variants were detected in 76 patients, with 14 patients exhibiting two concurrent variants in the same or different genes, and 4 patients having up to 3 variants. The most frequent variants were identified in the genes: COL4A, PKD1, C3, MCP, and CFH. Of these, 37% were pathogenic mutations, 26.6% were likely pathogenic, 33% were variants of uncertain significance (VUS) possibly related to the pathology, and 3.2% were unrelated VUS. In cases with negative GS results (42; 35%), we considered that the pre-genetic diagnosis was excluded in 17% of the overall patient cohort. Post-GS diagnoses included Alport (30; 25%), ADPKD (16, 14%), CAP (13; 11%), focal segmental glomerulosclerosis (6; 5%), TIN (4; 3%), autosomal recessive polycystic kidney disease (ARPKD) (1; 1%), congenital anomalies of the kidney and urinary tract (CAKUT) (1; 1%), and other conditions (5; 4%). The concordance between the pre-genetic diagnosis and GS result was 52% (N = 61). It led to a change in diagnosis in 48% of patients (N = 56); both positive and exclusionary results had an impact on clinical management in 83% (N = 98), and it resulted in a change in treatment in 20% (N = 24). Conclusion Genetic studies allow us to trace the origin of the kidney disease, providing a fundamental diagnostic tool. According to the literature, the most frequently diagnosed variants were those related to Alport syndrome, renal polycystic disease (with PKD1 being the most common), and mutations associated with complement pathway pathology. The implications and diagnostic changes brought about by genetic studies justify their implementation. In some cases, they also reclassify the kidney disease in our patients, enabling access to specific treatments.

Epidemiological Characteristics of Chronic Renal Failure Patients of Hodeidah, Yemen in 2023

Chronic renal failure (CRF) is an emergent worldwide public health problem. The increasing incidence of CRF warrants a need for an epidemiological approach to better understand the disease and its prevention. Therefore, the study aims to describe the epidemiological characteristics of chronic renal failure patients in Hodeidah, Yemen. The study included 560 patients with CRF in retrospective study (a case series based on medical files) in Center of Dialysis and Renal Diseases of Hodeidah, Yemen from 1st January 2023 to 31st December 2023. The patients were diagnosed based on evidence – based clinical practice guideline of all stages of CRF that was extracted from the National Kidney Foundation Kidney Disease Outcomes Quality Initiative (NKFKDOQI). Epidemiological data were reported with ethical approval consideration, data obtained were analyzed. 560 cases were diagnosed with renal failure, 555 patients (99.107 %) of them were diagnosed with CRF and 5 patients (0.89 %) were diagnosed with acute renal failure (ARF). CRF patients was founded 61.81 % in the males while 38.11 % in the females. However, this difference was statistically significant (X2= 30.921; p < 0.00001). The age range of patients was from 5 to 95 years, where 54.64% of cases occurred more than 50 years then 39.28 % between 18 to 49 years and the lower frequency was in children less than 18 years (5.22%) with different significant ( X2= 226.314 ; p < 0.00001). In addition, 81.98 % of patients in rural and 18.02 % in urban. The maximum cases were reported in summer session namely 13.21 % in July and 11.25 % in August. On the other hand , the major causes were chronic diseases 406 case (73.14 %) that diagnosed and recorded , 161 case (29 %) of hypertension ,132 case (23.78 %) of diabetes , 113 (20.36 %) of inflammation nephrolithiasis obstructive uropathy , 8 cases (1.44 %) of genetic polycystic renal disease , and 4 cases ( 0.72 % ) of sedative narcotic addiction and 137 case (24.68%) of unknown causes with different significant ( X2= 119.00 ; p < 0.00001). The chronic diseases namely diabetes and hypertension were the major causes reported to develop the CRF, therefore, to prevent the development of CRF based on center for control diseases and control (CDC), managing risk factors.

Anti-proliferative Activity of Vitex negundo Leaf Extracts on PA1 Human Ovarian Cancer Cell Lines.

In Ayurveda, Vitex negundo (VN) is used as a drug to manage pain, inflammation, and problems related to polycystic ovary disease and the menstrual cycle. The bioactive compounds isolated from this plant exhibit anti-inflammatory, anti-oxidant, anti-cancer, and microbicidal properties. The shrub VN is known for its role in the modulation of cellular events like apoptosis and cell cycle. There is still a scarcity of data in the literature on the cytotoxic activity of VN extracts on ovarian cancer. Therefore, in the present study, the phytochemical composition, anti-oxidant, and anti-cancer activities of leaf extracts were evaluated. The chloroform and methanol fractions exhibited higher phenolic content (161.04 ± 0.02 mg/g GAE and 152.56 ± 0.05 mg/g GAE, respectively) than those of other fractions. The aqueous and petroleum ether fractions exhibited higher flavonoid content (215.27 ± 0.28 mg/g QE and 111.82 ± 0.05 mg/g QE, respectively). The acetone and methanol extracts showed significant anti-oxidant capacities. Both leaf extracts of VN inhibited PA1 cancer cell growth in a dose-dependent manner with IC50 values of 88.01 ± 3.14 and 112.30 ± 1.93 μg/ml, respectively, as compared to the standard drug Doxorubicin with IC50 value 2.91 μg/ml (P<0.05, One-way ANOVA). The gas chromatography-mass spectroscopy (GC-MS) analysis allowed us to identify twenty-five bioactive compounds in acetone extract and twenty-two in methanol extract. Therefore, further studies should focus on the isolation of novel compounds that are more effective and less toxic, and that constitute interesting substitutes for the development of anti-cancer drugs.

Exception Policy Change Increased the Simultaneous Kidney-Liver Transplant Probability of Polycystic Disease in the Centers With High Median MELD at Transplantation.

In 2019, Organ Procurement and Transplantation Network/United Network for Organ Sharing changed the exception policy for liver allocation to the median model for end-stage liver disease at transplantation (MMaT). This study evaluated the effects of this change on-waitlist outcomes of simultaneous liver-kidney transplantation (SLKT) for patients with polycystic liver-kidney disease (PLKD). Using the Organ Procurement and Transplantation Network/United Network for Organ Sharing registry, 317 patients with PLKD listed for SLKT between January 2016 and December 2021 were evaluated. Waitlist outcomes were compared between prepolicy (Era 1) and postpolicy (Era 2) eras. One-year transplant probability was significantly higher in Era 2 than in Era 1 (55.7% versus 37.9%; P = 0.001), and the positive effect on transplant probability of Era 2 was significant after risk adjustment (adjusted hazard ratio, 1.76; 95% confidence interval, 1.22-2.54; P = 0.002 [ref. Era 1]), whereas waitlist mortality was comparable. Transplant centers were separated into the high and low MMaT groups with a score of 29 (median MMaT) and transplant probability in each group between eras was compared. In the high MMaT transplant centers, the 1-y transplant probability was significantly higher in Era 2 (27.5% versus 52.4%; P = 0.003). The positive effect remained significant in the high MMaT center group (adjusted hazard ratio, 2.79; 95% confidence interval, 1.43-5.46; P = 0.003 [ref. Era 1]) but not in the low MMaT center group. Although there was a difference between center groups in Era 1 ( P = 0.006), it became comparable in Era 2 ( P = 0.54). The new policy increased 1-y SLKT probability in patients with PKLD and successfully reduced the disparities based on center location.

Identification of mutations in the CYP19 gene in patients with polycystic ovary syndrome in Thi-Qar city

This study was conducted to diagnose the possible relationship between genetic variations in the CYP19 gene with the progression of polycystic ovary disease in Thi- Qar city. This study included ten samples, and a genetic fragment with a length of 202 base pairs was amplified in the 3′ untranslatable region (3′UTR) of the CYP19 gene. These samples were subjected to experiments to determine the sequence from both directions of the amplified fragment. Sequence identification experiments found that there was one previously undiagnosed point mutation, g.27933770C&gt;G, while these experiments found that there were two previously known point mutations, that is, previously discovered in the same amplified fragment, namely rs1201251894 and rs1163221780. Of the total of three-point mutations discovered, the current results indicate the presence of two of those point mutations observed in all the study samples, namely the new g.27933770C&gt;G and the previously known rs1201251894, while the mutation rs1163221780 was observed in only three samples, which are samples No. 3 and 5 and 10. As a result, this observation may contribute to revealing a specific intervention of these discovered mutations, or one of them, in the development of polycystic ovary disease in Thi -Qar. This research is the first to describe the presence of an unprecedented point mutation distributed in all samples subject to sequencing experiments for the CYP19 genetic segment in all patients with polycystic ovary syndrome. This study recommends investigating the pattern and mechanisms of this unprecedented mutation in its possible relationship with polycystic ovary syndrome within this geographical region.

Exploring polycystic disease solutions with ChatGPT: the role of AI in patient support and empowerment.

Exploring polycystic disease solutions with ChatGPT: the role of AI in patient support and empowerment.

Sequence of Surgical Approach in a Patient with Autosomal Dominant Polycystic Kidney Disease Treated with Renal Transplantation

Introduction: Describe the surgical sequence in a 55-year-old woman with an Autosomal Dominant Polycystic Kidney (ADPKD) Case Presentation: We performed three surgical procedures in a woman with Chronic Kidney Disease (CKD) secondary to ADPKD of 13 years of evolution from June to November 2023 which are as follows: Resection of 2 liver cysts and Laparoscopic cholecystectomy, Related living donor renal transplant, and Bilateral open nephrectomy, all of them with the use of innovative technology. Result: The first procedure was performed for risk reduction and two cysts of 3.5 cm x 1.6 cm x 1.5 cm and 3.3 cm x 2.0 cm x 1.4 cm and chronic cholecystitis were reported. The second one was performed one month later; the patient had previous creatinine values of 4.73. The graft was positioned in the right iliac fossa where end-to-side anastomosis of renal vessels was performed with external iliac vessels and uretero-vesical anastomosis was executed with the Lich-Gregoir technique; the total ischemia time was 109 minutes and the kidney presented immediate function. At 48 hours, a Doppler ultrasound was performed, which reported a renal artery resistance index of 0.5, with homogeneous cortical perfusion, without collections, vessels, and ureter without stenosis or thrombosis; therefore, the patient was discharged 5 days after the transplant with optimal graft function and creatinine levels of 1.75. In the last procedure, two kidneys of 1.6 kg each were obtained and pathology reported adult polycystic disease with interstitial fibrosis, chronic inflammation, dystrophic calcification, tubular and glomerular atrophy. At the moment she has stable graft function and went from having creatinine levels of 4.73 to 1.2 and her glomerular filtration rate went from 9.68 to 50.84.

Isolated Polycystic Disease of the Pancreas

Isolated polycystic disease of the pancreas is an extremely uncommon condition, with very few examples documented in the literature. Pancreatic cystic lesions are usually associated with other genetic disorders that involve other organs as well. However, isolated pancreatic polycystic disease is rare. We reported a symptomatic case of polycystic disease of the pancreas without evidence of cystic lesions in other organs.

Human inherited CCR2 deficiency underlies progressive polycystic lung disease

We describe a human lung disease caused by autosomal recessive, complete deficiency of the monocyte chemokine receptor C-C motif chemokine receptor 2 (CCR2). Nine children from five independent kindreds have pulmonary alveolar proteinosis (PAP), progressive polycystic lung disease, and recurrent infections, including bacillus Calmette Guérin (BCG) disease. The CCR2 variants are homozygous in six patients and compound heterozygous in three, and all are loss-of-expression and loss-of-function. They abolish CCR2-agonist chemokine C-C motif ligand 2 (CCL-2)-stimulated Ca2+ signaling in and migration of monocytic cells. All patients have high blood CCL-2 levels, providing a diagnostic test for screening children with unexplained lung or mycobacterial disease. Blood myeloid and lymphoid subsets and interferon (IFN)-γ- and granulocyte-macrophage colony-stimulating factor (GM-CSF)-mediated immunity are unaffected. CCR2-deficient monocytes and alveolar macrophage-like cells have normal gene expression profiles and functions. By contrast, alveolar macrophage counts are about half. Human complete CCR2 deficiency is a genetic etiology of PAP, polycystic lung disease, and recurrent infections caused by impaired CCL2-dependent monocyte migration to the lungs and infected tissues.

A clinical case of surgical treatment of a large kidney cyst in a 9-year-old girl with autosomal dominant polycystic kidney disease

BACKGROUND: Autosomal dominant polycystic kidney disease is currently the most common inherited form of cystic kidney disease, the frequency of which is about 1 per 400–1000 newborns, what makes the problem relevant. Its progressive course in patients with polycystic disease is primarily associated with the ischemic component, the severity of which depends on the number, location and size of cysts. Arterial hypertension, which is an autosomal dominant polycystic kidney disease complication, plays a leading role in renal failure progression. Given the current lack of specific treatment, the main therapeutic goal is to prevent complications, postpone the development of renal failure. Therefore, if there are large and giant cysts, surgical treatment is an effective modality and should be performed in a timely manner.&#x0D; CLINICAL CASE DESCRIPTION: The authors present a clinical case of a successful endovideosurgical cyst excision in a -year-old patient with a giant cyst in the right kidney, autosomal dominant polycystic disease, and hypertension of renal genesis.&#x0D; Endovideosurgical cystectomy in the patient with autosomal dominant polycystic kidney disease has become an important pathogenetic link in the treatment of this pathology. Currently, the patient is under dynamic follow-up for more than one year. During the follow-up period, the patient demonstrates relief of urinary syndrome in the form of disappeared haematuria, stabilization of albuminuria indices, improvement of blood flow parameters in the renal parenchyma, as well as stabilization of arterial pressure.&#x0D; CONCLUSION: The given clinical example demonstrates that reasonable surgical intervention with the choice of a rational method of access, taking into account the anatomical localization and size of the cystic formation, allowed to obtain a good result in the form of stabilization of renal hemodynamics in a patient with autosomal dominant polycystic kidney disease.

Debiased lasso for stratified Cox models with application to the national kidney transplant data.

The Scientific Registry of Transplant Recipients (SRTR) system has become a rich resource for understanding the complex mechanisms of graft failure after kidney transplant, a crucial step for allocating organs effectively and implementing appropriate care. As transplant centers that treated patients might strongly confound graft failures, Cox models stratified by centers can eliminate their confounding effects. Also, since recipient age is a proven non-modifiable risk factor, a common practice is to fit models separately by recipient age groups. The moderate sample sizes, relative to the number of covariates, in some age groups may lead to biased maximum stratified partial likelihood estimates and unreliable confidence intervals even when samples still outnumber covariates. To draw reliable inference on a comprehensive list of risk factors measured from both donors and recipients in SRTR, we propose a de-biased lasso approach via quadratic programming for fitting stratified Cox models. We establish asymptotic properties and verify via simulations that our method produces consistent estimates and confidence intervals with nominal coverage probabilities. Accounting for nearly 100 confounders in SRTR, the de-biased method detects that the graft failure hazard nonlinearly increases with donor's age among all recipient age groups, and that organs from older donors more adversely impact the younger recipients. Our method also delineates the associations between graft failure and many risk factors such as recipients' primary diagnoses (e.g. polycystic disease, glomerular disease, and diabetes) and donor-recipient mismatches for human leukocyte antigen loci across recipient age groups. These results may inform the refinement of donor-recipient matching criteria for stakeholders.

Calculation of Kidney Volumes with Magnetic Resonance in Patients with Autosomal Dominant Polycystic Kidney Disease: Comparison between Methods

Autosomal dominant polycystic renal disease (ADPKD) is the most frequent kidney inheritable disease, characterized by the presence of numerous bilateral renal cysts, causing a progressive increase in total kidney volume (TKV) and a progressive loss of renal function. Several methods can be used to measure TKV by using MRI, and they differ in complexity, accuracy and time consumption. This study was performed to assess the performance of the ellipsoid method and the semi-automatic segmentation method, both for TKV and SKV (single kidney volume) computation. In total, 40 patients were enrolled, and 78 polycystic kidneys analyzed. Two independent operators with different levels of experience evaluated renal volumetry using both methods. Mean error for ellipsoid method for SKV computation was −2.74 ± 11.79% and 3.25 ± 10.02% for the expert and the beginner operator, respectively (p = 0.0008). A Wilcoxon test showed a statistically significant difference between the two operators for both methods (SKV p = 0.0371 and 0.0034; TKV p = 0.0416 and 0.0171 for the expert and the beginner operator, respectively). No inter-operator significant difference was found for the semi-automatic method, in contrast to the ellipsoid method. Both with a Wilcoxon test and Bland–Altman plot, statistically significant differences were found when comparing SKV and TKV measurements obtained with the two methods for both operators, even if the differences are stronger for the beginner operator than for the expert one. The semi-automatic segmentation method showed more inter-observer reproducibility. The ellipsoid method, in contrast, appears to be affected by greater inter-observer variability, especially when performed by operators with limited experience.

Review on Polycystic Ovary Disease (PCOD)

Review on Polycystic Ovary Disease (PCOD)

Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype–phenotype correlations

BackgroundPolycystic renal disease (PRD) is a frequent congenital anomaly of the kidneys, but research utilizing chromosomal microarray analysis (CMA) and exome sequencing (ES) in PRD fetuses remains sparse, with the majority of studies focusing on the multisystem or genitourinary system. ObjectiveThis study aims to describe the detection rate of detectable genetic causes of fetal PRD at different levels, and novel disease-causing variants and explores genotype-phenotype correlations. Study DesignThis study included 220 fetal PRD from January 2014 to June 2022. Cases were divided into three groups: isolated multicystic dysplastic kidneys (MCDK), non-isolated MCDK, and suspected polycystic kidney disease group. We reviewed data on maternal demographics, ultrasonographic results, CMA/ES results, and pregnancy outcomes. ResultsIn our cohort, CMA identified 19 (8.6%) fetuses carrying chromosomal abnormalities, and the most common CNV was 17q12 microdeletion (7/220, 3.2%). Furthermore, 94 families chose to perform trio-ES testing, and 21 fetuses (22.3%) were found to harbor P/LP variants. For PRD, there was a significant difference in the live birth rate (91/130 vs. 46/80 vs. 1/10, p < 0.001). Among 138 live birth cases, 106 (78.5%) underwent postnatal ultrasound review, of which 95 (89.6%) had a consistent prenatal-postnatal ultrasound diagnosis. ConclusionsTaken together, either for isolated or non-isolated PRD, our data show high detection efficiency for both testing tools. Novel pathogenic variants have expanded the disease spectrum of PRD-associated genes while enriching the genotype-phenotype correlation. Therefore, we consider it feasible to perform CMA + ES testing in fetal PRD. Moreover, prenatal-postnatal ultrasound concordance was greater, while the live birth rate was higher and prognosis was better when known genetic disorders were excluded, showing that genetic testing results significantly influenced pregnancy decisions.