Stapled diaphragm resection: A new approach to diaphragmatic cytoreductive surgery for advanced-stage ovarian cancer.

Objective: To evaluate a novel technique for diaphragmatic full-thickness resection (DFTR) using a vascular stapler to perform cytoreductive surgeries in patients with advanced ovarian cancer.

Study Design: Single-center retrospective analysis of consecutive patients with advanced-stage ovarian cancer undergoing stapled diaphragmatic full-thickness resections (S-DFTRs) as part of cytoreductive surgeries between January 2018 and June 2022, according to the IDEAL recommendations.

Results: Fifteen patients underwent cytoreductive surgeries with S-DFTRs.

Ovarian Sertoli-Leydig cell tumours: A systematic review of relapsed cases.

Objective: To synthesize the evidence on Sertoli-Leydig cell tumour (SLCT) relapses, and identify the clinicopathological characteristics and prognosis of patients with recurrent SLCT.

Methods: A literature search was undertaken of all published cases of SLCT relapse found in PubMed, Embase and Web of Science databases between January 1998 and January 2021. All articles in English reporting at least one case of SLCT relapse and mentioning the relapse location or the follow-up data were included.

Sertoli-Leydig Cell Ovarian Tumors: Is Fertility or Endocrine-Sparing Surgery an Option upon Relapse?

Sertoli-Leydig cell ovarian tumors (SLCT) are rare ovarian tumors of the sex cord-stroma subset. Their incidence peaks in the second to third decade of life. Most SCLT are diagnosed at an early stage and have a good prognosis.

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

Joubert syndrome (JBS) is a clinically variable and genetically heterogeneous developmental brain disorder with autosomal recessive inheritance. Five genes, AHI1, NPHP1, CEP290, MKS3, and RPGRIP1L, and two additional loci on chromosome 9 and 11 have been identified so far. The relative contributions of AHI1 mutations and NPHP1 deletions have not yet been determined in a population-based JBS patient cohort.

Burkitt lymphoma in a child with Joubert syndrome.

Joubert syndrome is a rare disorder, characterized by hypoplasia, or aplasia of the cerebellar vermis, hypotonia, ataxia, and psychomotor retardation. The molecular basis underlying the disease is still unknown. There are various syndromes, which are associated with malignancies.

Hypertrichosis cubiti: two new cases and a review of the literature.

Two cases of hypertrichosis cubiti in combination with short stature, facial dysmorphias and retarded development are reported with a review of the literature. Hypertrichosis cubiti, the hairy elbows syndrome, consists of a localized form of long vellus hair on the extensor surfaces of the distal third of the upper arm and the proximal third of the forearm bilaterally. It can be associated with short stature and other physical abnormalities.

[Persistent tachypnea in infants: possibly due to interstitial pneumonitis].

In three male infants aged 3, 4.5 and 11 months with tachypnea and feeding problems, the initial supplementary examination revealed no possible cause. The tissue obtained by open lung biopsy showed interstitial pneumonia/pneumonitis.

Acute idiopathic scrotal oedema: four cases and a short review.

We report four cases of acute idiopathic scrotal oedema, an underreported cause of acute painless or moderately painfull swelling and erythema of the scrotum in young boys. It is a self-limiting disease and to prevent unnecessary surgical exploration or antibiotic therapy, it is very important to distinguish acute idiopathic scrotal oedema from more serious diseases.

[Juvenile xanthogranuloma: a form of histiocytosis with an excellent prognosis].

In three patients, a girl aged six weeks and two boys aged eight and three months, juvenile xanthogranuloma was diagnosed. This is a rare cutaneous disorder that predominantly occurs during infancy and early childhood. It is one of the non-malignant, non-Langerhans cell histiocytoses (class II histiocytoses).

[Hyperbilirubinemia in full-term neonates: sequelae for long-term development better than expected. Ad-hoc Commission Hyperbilirubinemia and Phototherapy of the Section Neonatology of the Netherlands Society for Pediatrics].

Objective: Critical evaluation of guidelines for treatment of hyperbilirubinaemia in healthy full-term newborns, based on literature data concerning effects of hyperbilirubinaemia on later development.

Design: Structured literature survey.

Setting: Groningen, the Netherlands.

[Hyperbilirubinemia in healthy full-term neonates: guidelines for diagnosis and treatment. Ad-hoc Commission Hyperbilirubinemia and Phototherapy of the Section Neonatology of the Netherlands Society for Pediatrics].

In healthy full-term neonates without haemolytic disease, hyperbilirubinaemia is not associated with neurological, auditory or cognitive disorders later in life. Therefore, the new threshold levels of hyperbilirubinaemia at which further diagnosis and treatment are indicated, are higher than the former ones.

Listeria meningitis presenting as enteritis in a previously healthy infant: a case report.

A previously healthy 1-year-old infant was admitted with pyrexia and mild gastro-intestinal symptoms. A blood culture, taken on admission, showed growth of Listeria monocytogenes (serotype 4b) on the 3rd day, at which time a lumbar puncture revealed a listeric meningitis. Despite the delay of antibiotic treatment, the infant never showed any neurological symptoms.

Scintigraphic assessment of lower urinary tract function in children with and without outflow tract obstruction.

Analysis of lower urinary tract function with an extension of standard renography with 123I-hippurate was carried out in 199 children. Maximum bladder capacity, voiding and residual bladder volumes, average and maximum urine flow rates and urine flow patterns were estimated. The index of urine transport (IUT), representing the relationship between urine flow rate and bladder volume, was introduced as a measure of outflow capability.

Urodynamics: a noninvasive screening of lower urinary tract function in children with radioisotopes.

A noninvasive intravenous assessment of lower urinary tract function with 123I-hippurate was carried out in 129 children without suspicion of lower urinary tract outflow pathology. Without increasing the radiation burden standard renography was extended by lower urinary tract function analysis in the same session. The maximum bladder capacity, voiding and residual bladder volumes, average and maximum urine flow rates were calculated and the relation between the urine flow rate and bladder volume expressed as the index of urine transport (IUT).

[Big spleen, big problems].

The history of a Moroccan girl is described with splenomegaly, lymphadenopathy and pancytopenia after a holiday in her native country. Bone marrow smears were considered negative for Leishmaniasis in four different laboratories. All other diagnostic options could also not be confirmed.

SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214).

A balanced maternal chromosome translocation (9p24;21q214) resulted in two offspring with unbalanced karyotypes. One of these, a girl trisomic for both segment 9pter to 9p24 and segment 21pter to 21q214, was found to have a SOD-A activity not significantly different from those found in a group of five cases with trisomy 21. However, clinical evaluation of this girl revealed no symptoms of the Down syndrome.

Five familial cases with a trisomy 16p syndrome due to translocation.

A clinical description is given of a syndrome present in three postnatally and two prenatally detected cases with partial trisomy 16p, caused by a familial translocation t(16;21) (p11;q22). The most consistent features of this syndrome are: low birth weight, small head circumference, low-set ears, palato(gnatho)schisis, micrognathia, thumb-agenesis or hypoplasia, hypertonia, overlapping fingers, single umbilical artery, and psychomotor retardation. The clinical picture was identical to that described by Roberts & Duckett (1978) for a single case.

Prenatal diagnosis of Meckel syndrome.

The three main features of Meckel syndrome are encephalocele, polycystic kidneys, and polydactyly. Prenatal diagnosis of a fetus with Meckel syndrome was made in the 16th week of gestation by means of amniotic fluid alpha1 fetoprotein estimation. The indication for amniocentesis was a previous child with an occipital meningocele and polycystic kidneys.