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Malakoplakia is a chronic inflammatory process caused by a lysosomal defect in bacterial digestion. Although rare, it occurs more frequently in the genitourinary tract and in patients with immune dysfunction. The bladder is the most commonly affected site, although cases have been reported in other organs, including the prostate gland. Clinically, this lesion can be confused with malignant tumours, both on physical examination and imagining techniques. This is particularly pronounced in the prostate, making the differential diagnosis challenging. Histologically, characteristic aggregates of histiocytes with basophilic intracytoplasmic inclusions composed of calcium and iron salts are found. We present a case diagnosed on transrectal biopsy as acinar adenocarcinoma with a Gleason 5 + 5 = 10 score. Prostatectomy revealed an unusual association of diffuse prostate malakoplakia and an area of acinar adenocarcinoma with a Gleason score of 3 + 4 = 7., (Copyright © 2019 Sociedad Española de Anatomía Patológica. Publicado por Elsevier España, S.L.U. All rights reserved.)

Background: Prader Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders caused by deletions or methylation defects, making a loss of expression of imprinted genes located in the 15q11-q13 region, and these can be assessed by different cytogenomic and molecular techniques. We report a case series of patients with PWS and AS evaluated through the MS-MLPA assay., Clinical Cases: We studied four patients with a clinical diagnosis of PWS and another with AS, evaluated as far as possible with karyotype and FISH, and with MS-MLPA assay for the 15q11-q13 region in all cases. In patients with PWS, neonatal hypotonia was the main reason for consultation and in three of them we identified a deletion of 15q11-q13 by MS-MLPA, also confirmed by FISH; and in the other one, an abnormal methylation pattern consistent with a maternal uniparental disomy. The patient with AS presented with a typical picture which led to the identification of a deletion in 15q11-q13 by MS-MLPA, also confirmed by FISH., Conclusions: The use of the MS-MLPA assay for the 15q11-q13 region was very useful for the diagnosis and identification of the genomic and epigenetic defects involved in either PWS and AS.

Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino)., Clinical Case: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A. The family information allowed us to conclude that the 4 products of the 6 previous pregnancies were affected. Statistical analysis in at least 4 families previously described, including this family case showed significant differences between expected and observed number of members, being incongruent with an autosomal recessive mode of inheritance previously reported., Conclusions: therefore, it could be considered a new subtype of achondrogenesis type 1A due to the presence of a preferential germline mutation., (Copyright: © 2018 Permanyer.)

The non-syndromic anterior cervical hypertrichosis (OMIM N° 600457) is a genetic disorder characterized by a patch of hair at the level of the laryngeal prominence. We present a 12-year-old boy with anterior cervical hypertrichosis and mild generalized hypertrichosis. He has no neurological, ophthalmological or skeletal anomalies. The clinical follow up is 10 years., (Sociedad Argentina de Pediatría.)

Background: Although the association between the type of idiopathic nephrotic syndrome (INS) and a peculiar pattern of fingerprints digital would suggest the presence of genetic factors related to both, this has not been previously studied. This study aimed to evaluate if there are fingerprints patterns differences between children with steroid-resistant INS (SRNS) and those with steroid-sensitive INS (SSNS)., Methods: The frequencies distribution of arches, ulnar loops, radial loops, and whorls was studied in 60 children with SRNS, and 60 children with SSNS. Bivariate analysis to detect the relationship between each fingerprint pattern with the study groups was performed by chi-square test and to evaluate its possible association, the odds ratios (OR) were calculated with 95% confidence's intervals (95%CI)., Results: The patients with SRNS had a higher frequency of digital whorls compared with that of patients with SSNS (46.7% vs. 30.7%, p = 0.005). Additional comparisons using a "whorls excesses" definition obtained from normative data in our population (≥ 7 whorls in females or ≥ 8 in males) were associated with increased odds for SRNS (OR 2.96, 95% CI 1.15-7.61)., Conclusions: Our findings indicate that there are differences between children with SRNS and SSNS at the level of digital dermatoglyphics, but further studies are needed to confirm this association and its possible implications.

Introduction: Acute lymphoblastic leukemia (ALL) has been associated with an excess of minor phenotypic variants (MPV), including common variants and minor anomalies, indicative of an altered phenogenesis. The objective of the study was to determine the association between MPV and ALL., Patients and Methods: In a hospital based case-control study, we studied 120 children with ALL (including standard and high risk) and 120 healthy children as a control group, matched for age and sex, seen in the Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Guadalajara, Mexico). In both groups, 28 anthropometric measurements were made, as well as a systematic search for 405 MPV, through a physical examination. Adjusted odds ratio was estimated (aOR) with its intervening variables by logistic regression. The confidence interval was 95% (95%CI)., Results: Anthropometric signs associated with ALL were: long upper segment (aOR= 2.19, 95%CI: 1.01-4.76), broad jaw (aOR= 2.62, 95%CI: 1.29-5.30), narrow ears (aOR= 6.22, 95%CI: 2.60-14.85), and increase in internipple distance (aOR= 2.53, 95%CI: 1.07-5.98). The hypoplasia mesofacial, broad forehead, small nose, short columella, narrow ears, telethelia, Sydney crease (SC), Greek type feet and café-au-lait spots (CALS), had a 3 to 17 times higher frequency in children with ALL. By number, an association was found from ≥4 MPV (aOR= 2.14, 95%CI: 1.25-3.66, P=.004)., Conclusions: From ≥4 MPV, an association was found with ALL, suggesting prenatal factors in phenogenesis and leukemogenesis. CALS and SC were confirmed as MPV in children with ALL., (Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.)

Ataxia telangiectasia (AT) is a chromosomal instability syndrome with autosomal recessive inheritance, it is caused by more than 500 mutations of the ATM gene, which is involved in the cellular response to DNA damage. The diagnosis becomes difficult due to the evolution of the disease, their poor knowledge, and limited access to diagnostic tests. Chromosomal damage induced by ionizing radiation (IR) assay is still a sensitive method for early diagnosis, and it is essential for better management and genetic counseling. This paper shows diagnosis and follow-up in four cases with AT.

Background: In Peru, the incidence of primary focal segmental glomerulosclerosis (PFSGS) has considerably increased in the last decade and at the present; it is the first cause of primary glomerulonephritis in adults. Because of its prevalence and high probability to progress to end-stage renal disease (ESRD), we searched for factors with prognostic value for renal survival and proteinuria remission., Subjects and Methods: Historical cohort of 44 patients. We studied clinical and histological characteristics at the time of renal biopsy and clinical condition and renal function at the end of follow-up. PRINCIPAL OUTCOMES: renal impairment (increase >or=50% of basal creatinine levels and/or ESRD), proteinuria remission (partial 0.3-3.49 g/day and complete < 0.3g/day). Kaplan-Meier's curves and Cox's Multivariate Regression were used., Results: The 59% of patients were men. The 54.5% had renal failure, 53.5% nephrotic syndrome and 43.2% hypertension or high blood pressure (HBP) at renal biopsy. The frequency of histological variants was: not otherwise specified (NOS) 75%, cellular 13.6%, tip 6.8% and perihilar 4.5%. The 56.8% received steroids for 4.3 +/- 4.5 months and 32% of these patients were corticodependent. After a mean follow-up of 21.6 +/- 27.8 months, the renal function decreased in 18.2% of patients. The 37.8% and 32.4% of patients reached partial and complete proteinuria remission respectively. Treatment with steroids, antihypertensive therapy and IgM and C3 glomerular deposits were associated with a high renal survival. The treatment with steroids was the only factor that forecasted a high renal survival (hazard ratio or HR: 0.07, 0.01-0.9) and proteinuria remission (HR: 0.2, 0.04-0.9). In general, high blood pressure (HR: 6.2, 1.1-35.2), renal failure (HR: 2.9, 1.1-7.6), cellular variant and interstitial fibrosis (HR: 5.2, 1.02-26.7) were prognostic factors for not achieving proteinuria remission., Conclusions: In primary focal segmental glomerulosclerosis, treatment with steroids forecasted a high renal survival and proteinuria remission. Renal failure and interstitial fibrosis were prognostic factors for not achieving proteinuria remission.

Objective: To determine prevalence and maternal risk factors associated with preauricular tags., Material and Method: A case-control study of 254 newborns with isolated preauricular tags not considered part of a syndrome and their controls, and who were delivered at the Hospital Civil de Guadalajara Dr. Juan I. Menchaca between 1990 and 2003. The maternal risk factors were demonstrated by means of a direct interview with the mother., Results: The prevalence of the isolated preauricular tags was 1.96 per 1,000 newborns alive, in a 1.2 men for each woman. The history of another affected relative was strongly associated with preauricular tags (OR 19.28; 95% CI: 4.44-117.60). Infants with preauricular tags frequently showed parents consanguinity (OR 3.04; 95% CI: 0.28-76.26), maternal age > or =35 years (OR 1.14; 95% CI: 0.53-2.48), exposure to some disease (OR: 1.23, 95% CI: 0.72-2.12), and drugs use in the first trimester of pregnancy (OR: 1.11; 95% CI: 0.65-1.92). No associations were found for the frequency of abortion, exposure to organic solvents and maternal occupation., Conclusions: The prevalence of isolated preauricular tags in this population was similar to that reported in other regions of Latin America, but lower to the prevalences in Sweden and Israel. This malformation has an important hereditary component; however, it is probably that some teratogenic factors, such as diabetes mellitus, can increase its frequency.

Objective: To determine whether simian and Sydney creases are associated to preterm delivery or to term low birth weight., Patients and Methods: We performed a cross-sectional study of 490 live newborns without apparent malformations from the Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Guadalajara, Mexico). Patients were categorized in three groups: group I: 175 infants with preterm delivery; group II: 140 term low birth weight infants; group III: 175 at term newborns with adequate weight for gestational age. On all groups, perinatal history was registered and palm creases were studied by direct inspection and classified as normal, simian crease (single palmar flexion crease) or Sydney crease (continuation of the proximal palmar crease until the ulnar border of the palm). We used the odds ratio as an association measurement, with 95% confidence intervals., Results: The simian crease frequency did not show significant differences between groups. Sydney crease frequencies on groups I, II and lll were 29.7, 34.2 and 18.2%, respectively (p = 0.0037). Sydney crease presence was associated with near to two-fold frequency to preterm birth (OR: 1.89, 95% CI: 1.11-3.23) and more than double with low birth weight (OR: 2.33, 95% Cl: 1.07-5.23)., Conclusions: Sydney crease was associated with occurrence of the preterm and term low birth weight deliveries.