Proposal for a strategy on the follow-up in Japanese neonates with mild congenital hydronephrosis

Abstract Congenital generalized hypertrichosis, in its most common form, is idiopathic. In the absence of underlying endocrine or metabolic disorders, congenital generalized hypertrichosis is rare in humans, affecting as few as one in a billion individuals and may be an isolated condition of the skin, or a component feature of other disorders or syndromes. Congenital generalized hypertrichosis terminalis is an extremely rare condition, a distinct subset of disorders with congenital hypertrichosis, presenting with excessive hair as the primary clinical feature. Congenital generalized hypertrichosis terminalis is characterized by universal excessive growth of pigmented terminal hair and often accompanied with gingival hyperplasia and/or a coarse face. Gingival hyperplasia may be delayed even until puberty. Its pathogenesis may be caused by one of the following mechanisms: conversion of vellus to terminal hairs and/or prolonged anagenetic stage, and/or increase in the number of hair follicles. Since the Middle Ages, less than 60 individuals with congenital hypertrichosis terminalis have been described, and, according to the most recent estimates, less than 40 cases were documented adequately and definitively in the literature. Recent articles identified congenital generalized hypertrichosis terminalis as a genomic disorder. This report is a follow up of a six-year-old boy born from the first normal pregnancy of non-consanguineous parents, starting from delivery. Our investigation revealed a history of: excessive hair growth and a coarse face from birth; increased body weight with high blood pressure and gingival hyperplasia at the age of four months. The parents denied any medication or chemical intake during pregnancy, as well as a history of hypertrichosis in their families. The child had a congenital hydronephrosis of the right kidney. Ultrasound and magnetic resonance imaging revealed severe congenital hydronephrosis of the right kidney and suspicion of hypertrophy of the left adrenal gland suggestive of an adenoma. The follow up showed normal values of hormones which excluded adrenal tumor. At the age of 8 months the patient underwent right-sided nephrectomy after several urinary infections. The child was admitted again to our Clinic at the age of four years, with generalized hypertrichosis, gingival hyperplasia and a coarse face without any other pathological signs. He has had a normal intellectual development, but was extremely shy, unconfident and dependent on his mother. The relevant laboratory investigations showed normal full blood count, biochemical, hormonal test results and normal function of the single kidney. Molecular chromosome analysis revealed heterozygous deletion on chromosome 17q12 region. Prolonged follow-up with routine checkups every 6–12 months was advised, including regular outpatient appointments particularly with an endocrinologist, because of the risk of diabetes mellitus, and with a nephrologist, for control of renal function. Laser hair removal was suggested and the patient underwent one procedure with long pulsed neodynium:yttrium-albumin-garnet laser with a wavelength of 1064 nm. The procedure was effective and well-tolerated and the treatment course is currently ongoing. Although it is now believed that most people with congenital generalized hypertrichosis have an unknown genetic defect, up to date, a clear specific molecular abnormality has not been proved. It has been suggested that the distal portion of human chromosome 17q may contain dosage-sensitive genes that contribute to excessive hair growth. We present a sporadic case of an extremely rare congenital generalized hypertrichosis terminalis in a six-year-old boy born to non-consanguineous parents, with gingival hyperplasia, a coarse face and congenital hydronephrosis, with heterozygous deletion on chromosomal region 17q12 consistent with his renal phenotype.

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CONGENITAL HYDRONEPHROSIS: PROBLEMS IN DIAGNOSIS AND MANAGEMENT

Indonesian Journal of Urology ◽

10.32421/juri.v17i2.347 ◽

1970 ◽

Vol 17 (2) ◽

Author(s):

Yonas Immanuel Hutasoit ◽

Irfan Wahyudi ◽

Arry Rodjani

Keyword(s):

Antenatal Care ◽

Age Groups ◽

Renal Scintigraphy ◽

Age At Diagnosis ◽

Diagnostic Tools ◽

Voiding Cystourethrogram ◽

Diagnosis And Management ◽

Congenital Hydronephrosis ◽

Significant Difference

Objective: To evaluate problems in diagnosis and management of congenital hydronephrosis. Material & methods: This study was retrospective. Data was collected from medical records of patients with congenital hydronephrosis, which were hospitalized or went to urologic outpatient clinic at Ciptomangunkusumo Hospital from January 1999 to December 2008 and Harapan Kita Maternal and Pediatric Hospital from January 2004 to December 2008. Data was analyzed with SPSS programme version 13.0. Statistical analysis was performed to find the relationship between age at diagnosis and kidney function (Mann-Whitney test) and between age at diagnosis and nephrectomy rate (Chi-Square test). Results: There were 15 patients who presented because of antenatal diagnosis. Of the 145 patients, we could collect antenatal history only from 63 patients. Obstetricians provided antenatal care in 56 out of 63 patients. Antenatal ultrasound was performed in only 59 out of 63 patients and only 44,07% (26 patients) with hydronephrosis was detected antenatally. Eleven out of 26 antenatally diagnosed patients came to our clinic at a later age. Three standard studies (postnatal ultrasound, voiding cystourethrogram, and renal scintigraphy) were performed only in 12 out of 145 patients (8,27%). Ultrasound was performed in 108 patients (74,5%), voiding cystourethrogram in 79 patients (54,5%), and renal scintigraphy in only 26 ptients (17,9%). The suggested management was conducted in 115 patients; operative management in 95 patients (82,61%) and conservative treatment in 20 patients (17,39%). The most common operative procedures were ureteroneocystostomy, pyeloplasty, nephrectomy, and posterior urethral valveablation. Mean serum creatinine in below 12 months old group and above 12 months old group was 0,78±0,93mg/dl dan 1,03±0,88 mg/dl respectively(p<0,05). There was no significant difference in nephrectomy rate in both age groups (p>0,05). Nephrectomy was performed in 16 patients, with the most common indication was grade IV hydronephrosis with thin parenchyma in 11 patients (68,75%) and the most common etiology was UPJ obstruction in 10 patients (62,5%). We can only collect follow up data from 73 out of 115 managed patients (63,48%). Urinalysis, ultrasound/voiding cystourethrogram, and renal function studies were not routinely conducted during follow up. Conclusion: The management of congenital hydronephrosis in Indonesia needs improvements in antenatal care standards, particularly obstetric ultrasound, to improve early detection of congenital hydronephrosis. Better education for parents about the importance of follow up is needed, especially for antenatally diagnosed patients. A consensus regarding diagnostic tools used in managing congenital hydronephrosis must be established among urologists, pediatricians, and radiologists.

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Exacerbation of Congenital Hydronephrosis as the First Presentation of COVID-19 Infection in Children: A Case Series

10.21203/rs.3.rs-920932/v1 ◽

2021 ◽

Author(s):

Masoumeh Mohkam ◽

Mahnaz Jamee ◽

Farshid Kompani ◽

Mitra Khalili ◽

Atena Seifi ◽

...

Keyword(s):

Urinary Tract ◽

Case Series ◽

Upper Urinary Tract ◽

Abrupt Increase ◽

Antenatal Hydronephrosis ◽

Congenital Hydronephrosis ◽

Abdominal Masses ◽

The Common ◽

Case Presentations

Abstract Background:Congenital hydronephrosis is one of the most common abnormalities of the upper urinary tract, which can be exacerbated by a variety of intrinsic or extrinsic triggers. The urinary tract system is one of the major organs complicated by COVID-19 infection. Case presentations:Here we report five patients with an established diagnosis of congenital hydronephrosis, who presented with acute abdominal pain and fever and an abrupt increase in the anteroposterior pelvic diameter (APD). Patients had a previous stable course and were under regular follow-up with serial ultra-sonographic studies. They underwent surgery or supportive treatment due to the later exacerbation of hydronephrosis. Based on the clinical and imaging findings, no plausible etiologies for these exacerbation episodes, including infection, nephrolithiasis or abdominal masses, could be postulated. The common aspect in all these patients was the evidence of a COVID-19 infection. Conclusions:Infection with COVID-19 in children with antenatal hydronephrosis may exacerbate the degree of hydronephrosis and renal APD in ultrasonography, which itself may be mediated by the increase in inflammatory mediators.

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Congenital Hydronephrosis: Evaluation, Follow-Up and Clinical Outcome

Pediatric Nephrology - Pediatric and Adolescent Medicine ◽

10.1159/000422996 ◽

2015 ◽

pp. 141-153

Author(s):

Arye Blachar ◽

Yoram Blachar

Keyword(s):

Clinical Outcome ◽

Congenital Hydronephrosis

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Congenital Hydronephrosis: Disease or Condition?

PRILOZI ◽

10.2478/prilozi-2014-0016 ◽

2014 ◽

Vol 35 (2) ◽

pp. 123-129 ◽

Cited By ~ 2

Author(s):

Mile Petrovski ◽

Risto Simeonov ◽

Lazar Todorovikj ◽

Vladimir Chadikovski ◽

Shaban Memeti ◽

...

Keyword(s):

Mean Value ◽

Initial Evaluation ◽

Benign Condition ◽

Congenital Hydronephrosis ◽

Grade Ii ◽

The Mean ◽

Strategic Options ◽

Timely Treatment ◽

Grade Iii

Abstract The aim of this paper is to address the dilemmas of the paediatric surgeon when facing an isolated, unilateral, congenital hydronephrosis and discuss the strategic options for the management of this condition. Congenital hydronephrosis, the most commonly diagnosed uropathy in children, is usually a benign and self-resolving condition. Nonobstructive hydronephrosis does not require operative treatment, while timely treatment is imperative for obstructive hydronephrosis before significant renal damage ensues. Managing congenital hydronephrosis is a challenging task. Thirty-two children with unilateral, isolated hydronephrosis and nonobstructed renography curves were followed up for 3 years. On the initial evaluation according to the grade of hydronephrosis: 22.6% were grade I, 54.8% grade II and 22.6% grade III. After 12 months of follow-up: 30% were grade I, 51.5% grade II and 18.5% grade III, respectively. After the three-year follow-up, there were no hydroneproses greater than grade II. The mean value of the separate GFR of the affected kidney at initial evaluation was 42.83%, and 40.33% after three years. In three children the treatment was converted from conservative to surgical. Nonobstructive, congenital hydronephrosis is a benign condition not requiring any medical treatment, but aggressive observation is indicated.

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Therapy and prevention for mental health: What if mental diseases are mostly not brain disorders?

Behavioral and Brain Sciences ◽

10.1017/s0140525x1800105x ◽

2019 ◽

Vol 42 ◽

Cited By ~ 2

Author(s):

John P. A. Ioannidis

Keyword(s):

Mental Health ◽

Mental Disease ◽

Brain Disorders ◽

Social Stressors ◽

Labor Education ◽

Mental Diseases ◽

Long Term Follow Up ◽

Political Decisions

AbstractNeurobiology-based interventions for mental diseases and searches for useful biomarkers of treatment response have largely failed. Clinical trials should assess interventions related to environmental and social stressors, with long-term follow-up; social rather than biological endpoints; personalized outcomes; and suitable cluster, adaptive, and n-of-1 designs. Labor, education, financial, and other social/political decisions should be evaluated for their impacts on mental disease.

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Brief summary of Kleť photographic search programme for minor planets

International Astronomical Union Colloquium ◽

10.1017/s0252921100031419 ◽

1999 ◽

Vol 173 ◽

pp. 189-192

Author(s):

J. Tichá ◽

M. Tichý ◽

Z. Moravec

Keyword(s):

Ccd Camera ◽

Minor Planet ◽

Minor Planets ◽

Main Belt

AbstractA long-term photographic search programme for minor planets was begun at the Kleť Observatory at the end of seventies using a 0.63-m Maksutov telescope, but with insufficient respect for long-arc follow-up astrometry. More than two thousand provisional designations were given to new Kleť discoveries. Since 1993 targeted follow-up astrometry of Kleť candidates has been performed with a 0.57-m reflector equipped with a CCD camera, and reliable orbits for many previous Kleť discoveries have been determined. The photographic programme results in more than 350 numbered minor planets credited to Kleť, one of the world's most prolific discovery sites. Nearly 50 per cent of them were numbered as a consequence of CCD follow-up observations since 1994.This brief summary describes the results of this Kleť photographic minor planet survey between 1977 and 1996. The majority of the Kleť photographic discoveries are main belt asteroids, but two Amor type asteroids and one Trojan have been found.

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Intranuclear Crystals in Regenerating Canine Kidneys

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100072502 ◽

1973 ◽

Vol 31 ◽

pp. 412-413

Author(s):

D.G. Osborne ◽

L.J. McCormack ◽

M.O. Magnusson ◽

W.S. Kiser

Keyword(s):

Epithelial Cell ◽

Epithelial Cells ◽

Tubular Epithelial Cell ◽

Tubular Epithelial Cells ◽

Cell Nuclei ◽

Crystalline Structures ◽

Small Crystals ◽

Membrane Bound

During a project in which regenerative changes were studied in autotransplanted canine kidneys, intranuclear crystals were seen in a small number of tubular epithelial cells. These crystalline structures were seen in the control specimens and also in regenerating specimens; the main differences being in size and number of them. The control specimens showed a few tubular epithelial cell nuclei almost completely occupied by large crystals that were not membrane bound. Subsequent follow-up biopsies of the same kidneys contained similar intranuclear crystals but of a much smaller size. Some of these nuclei contained several small crystals. The small crystals occurred at one week following transplantation and were seen even four weeks following transplantation. As time passed, the small crystals appeared to fuse to form larger crystals.

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Electron Microscopy of Human Gallstones

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100065523 ◽

1971 ◽

Vol 29 ◽

pp. 296-297

Author(s):

C. Wolpers ◽

R. Blaschke

Keyword(s):

Electron Microscopy ◽

Room Temperature ◽

Bile Pigment ◽

X Ray Diffraction ◽

Triclinic Crystal System ◽

X Ray ◽

Follow Up Study ◽

Infra Red ◽

Main Components

Scanning microscopy was used to study the surface of human gallstones and the surface of fractures. The specimens were obtained by operation, washed with water, dried at room temperature and shadowcasted with carbon and aluminum. Most of the specimens belong to patients from a series of X-ray follow-up study, examined during the last twenty years. So it was possible to evaluate approximately the age of these gallstones and to get information on the intensity of growing and solving.Cholesterol, a group of bile pigment substances and different salts of calcium, are the main components of human gallstones. By X-ray diffraction technique, infra-red spectroscopy and by chemical analysis it was demonstrated that all three components can be found in any gallstone. In the presence of water cholesterol crystallizes in pane-like plates of the triclinic crystal system.

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Articulatory Intervention for the Visually Impaired

Language Speech and Hearing Services in Schools ◽

10.1044/0161-1461.1003.139 ◽

1979 ◽

Vol 10 (3) ◽

pp. 139-144

Author(s):

Cheri L. Florance ◽

Judith O’Keefe

Keyword(s):

High School ◽

High School Students ◽

Behavior Change ◽

Visually Impaired ◽

School Students ◽

Handicapped Children ◽

Paired Stimuli ◽

Visually Handicapped ◽

Parent Program

A modification of the Paired-Stimuli Parent Program (Florance, 1977) was adapted for the treatment of articulatory errors of visually handicapped children. Blind high school students served as clinical aides. A discussion of treatment methodology, and the results of administrating the program to 32 children, including a two-year follow-up evaluation to measure permanence of behavior change, is presented.

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