Assessment of the optic nerve using strain and shear-wave elastography in patients with pseudotumour cerebri.

AIM: To evaluate the optic nerve using strain elastography (SE) and shear-wave elastography (SWE) in idiopathic intracranial hypertension (IIH) patients in comparison to participants in the control group. MATERIALS AND METHODS: Eighty eyes were evaluated in 40 cases consisting of 20 IIH patients and 20 participants in the control group. This study was conducted using SE and SWE in addition optic nerve sonography measurements of participants in the IIH patient group and the control group. SE patterns were categorised using three main types and two subtypes. Quantitative measurements of optic nerve stiffness with SWE were expressed in kilopascals. RESULTS: In the IIH patient group, type 2 and type 1 elasticity patterns were primarily observed, followed by type 3 patterns. In the control group, type 3 elasticity patterns were most often observed, while type 2 elasticity patterns were seen less frequently. Statistically significance differences in the types of elasticity strain patterns were observed between the groups (p<0.01). Quantitative analysis was also performed, and the SWE moduli were obtained for the control group (10.1±0.28 kPa) and the IIH patient group (26.97±1 kPa). A statistically significant difference in the SWE modulus was found between the groups (p<0.01). CONCLUSION: Biomechanical changes may have occurred in the optic nerve secondary to increased intracranial pressure in IIH patients. Strain and shear elastography may have potential as assistive diagnostic techniques for the detection and follow-up of these changes.

Triage of urology referrals and outpatient service during COVID-19 pandemic: experience from a single centre in Malaysia.

In Malaysia, COVID-19 pandemic recorded considerable number of cases. Many hospitals have been converted into COVID-19 centres to manage these cases. The Penang General Hospital was designated as a hybrid hospital to manage both COVID-19 and non-COVID-19 cases. Consequently, services across specialties, including urology have been affected. Triage of referrals was necessary to ensure optimum patient care, thus we designed a triage system to address this situation. A record screening system of patients was also implemented to limit outpatient appointments. We share this early experience in managing urology patients during this pandemic.

Interleukin-6 and C-reactive protein load in pre-storage and post-storage white blood cell-filtered red blood cell transfusions in premature infants.

OBJECTIVE: Leukocyte contamination during blood transfusion can cause many adverse effects. Filtration can be performed either at bedside during the transfusion or as pre-storage filtration. Pre-storage filtration is superior to bedside filtration because leukocytes are removed prior to storage, thus preventing further adverse effects associated with the storage of these cells. METHODS AND MATERIALS: One hundred and six infants were randomised into two groups: pre-storage filtration (group 1, n = 53) and bedside filtration (group 2, n = 53). C-reactive protein (CRP) and interleukin-6 (IL-6) levels were analysed within 24 h prior to the transfusion and 24 h after completion of the transfusion. RESULTS: In group 1, pre-transfusion median CRP and IL-6 levels were 2·95 (0·73-10·25) mg L(-1) and 8·59 (3·45-20·55) pg L(-1) , respectively, and post-transfusion median CRP and IL-6 levels were 2·28 (0·44-12·87) mg L(-1) and 6·62 (2·18-27·87) pg L(-1) , respectively. In group 2, pre-transfusion median CRP and IL-6 levels were 1·30 (0·40-7·84) mg L(-1) and 4·40 (2-17·12) pg L(-1) , respectively, and post-transfusion median CRP and IL-6 levels were 3·50 (0·50-7·85) mg L(-1) and 8·30 (3·48-23·75) pg L(-1) , respectively. There were no differences between pre-storage and post-storage leukoreduction average IL-6 and CRP levels in either group (P > 0·05 for both). Packed red blood cell (PRBC)-related necrotizing enterocolitis was detected in one infant in group 2. CONCLUSIONS: Because leukocytes in PRBC transfusions can be associated with many undesirable effects, leukoreduction is the best choice to prevent those effects. However, this method is still controversial. We demonstrated that using pre-storage and post-storage leukoreduction methods in erythrocyte transfusions did not change CRP or IL-6 levels, which are indicators of acute-phase response.

Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report.

Su Partial trisomy 3p and partial monosomy 11q are rare chromosomal disorders with a deletion of part of chromosome 11 combined with a duplication of part of chromosome 3. These are usually inherited from a parent who carries a balanced translocation involving chromosome 3, which can result in the unbalanced translocation trisomy 3p in a child. In this paper, we report a newborn who has dysmorphic facial features, double outlet right ventricle, hypotonia, hypospadias, neonatal thrombocytopenia, hydroureteronephrosis, talipes equinovarus and septum pellucidum et vergae. Cytogenetic investigation revealed 46,XY,der(11)t(3;11)(p22.2;q23.3) and the karyotype of his father showed a balanced translocation, 46XY,t(3;11)(p22.2;p23.3).

Prostate cancer in multi-ethnic Asian men: Real-world experience in the Malaysia Prostate Cancer (M-CaP) Study.

Prostate cancer is the third most common cancer in Malaysia with the lifetime risk of 1 in 117 men. Here, we initiated a longitudinal Malaysia Prostate Cancer (M-CaP) Study to investigate the clinical and tumour characteristics, treatment patterns as well as disease outcomes of multi-ethnic Asian men at real-world setting. The M-CaP database consisted of 1839 new patients with prostate cancer diagnosed between 2016 and 2018 from nine public urology referral centres across Malaysia. Basic demographic and clinical parameters, tumour characteristics, primary treatment, follow-up and vital status data were retrieved prospectively from the hospital-based patients' case notes or electronic medical records. Primary endpoints were overall survival (OS) and biochemical progression-free survival (bPFS). The median age at diagnosis of M-CaP patients was 70 years (interquartile range, IQR 65-75). Majority of patients were Chinese (831, 45.2%), followed by Malays (704, 38.3%), Indians (124, 6.7%) and other races (181, 9.8%). The median follow-up for all patients was 23.5 months (IQR 15.9-33.6). Although 58.1% presented with late-stage cancer, we observed ethnic and geographic disparities in late-stage prostate cancer diagnosis. Curative radiotherapy and primary androgen deprivation therapy were the most common treatment for stage III and stage IV diseases, respectively. The median OS and bPFS of stage IV patients were 40.1 months and 19.2 months (95% CI 17.6-20.8), respectively. Late stage at presentation remains a challenge in multi-ethnic Asian men. Early detection is imperative to improve treatment outcome and survival of patients with prostate cancer.

Chromosome variants in children with psychiatric disorders.

The authors studied the frequency of chromosome variants in 48 hospitalized children with psychiatric diagnoses (study group) in comparison with 10 hospitalized children with nonpsychiatric diagnoses (control group) and the results of three surveys of newborn children. They found that the frequency of variants in their study group was elevated in comparison with their control group and with the newborn surveys.

The Costello syndrome.

In 1971 and again in 1977, Costello reported on two unrelated children with multiple congenital malformations associated with growth and developmental retardation and nasal papillomata (Costello, NZ Med J 74:397, 1971; Costello, Aust Paediatr J 13:114-118, 1977). Subsequently, two similar cases were described (Der Kaloustian et al., Am J Med Genet 41:69-73, 1991; Martin and Jones, Am J Med Genet 41:346-349, 1991). Costello syndrome is now a distinct entity. We describe another patient who additionally had hitherto unreported malformations, such as hydrocephalus, seizures, atrial fibrillation, and flutter with atrial septal defect. Although no nasal lesions were found he had laryngeal papillomata associated with a congenital web. A skin biopsy showed no evidence of lipid or mucopolysaccharide storage disease and muscle biopsy was normal by gross and electron microscopic examination.

Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.

We have studied an infant with cloverleaf skull, proptosis, radioulnar synostosis and broad thumbs and great toes diagnosed as Pfeiffer syndrome type 2. However, there were many overlapping findings with Antley-Bixler syndrome. The patient was found to have a G to T mutation in codon 290 exon 7 of the FGFR2 gene leading to a substitution of a cys for the normal trp at this locus. This is the third mutation characterized at this codon; therefore, this locus appears to be a mutational hotspot in the gene. However, the other known mutations lead to a milder, Crouzon-like phenotype. The introduction of an additional cys into a region characterized by immunoglobulin-type loops maintained by cys S-S crosslinking may provide an explanation for the severity of the clinical findings of this child.

CD1+ cells in mothers of stillborn infants with neural tube defects.

In healthy individuals, CD1+ cells are found in thymic- tissue, but not in peripheral blood. The thymus, as a key organ of the neuroendocrine system, frequently shows gross abnormalities in infants with neural tube defects. In order to study the immunologic significance of fetal thymic findings, maternal T-lymphocyte subpopulations were investigated. In 10 mothers of healthy newborns, 5 mothers of stillborn infants who had no gross abnormalities, and 5 mothers of stillborn infants with neural tube defects, CD1+, CD3+, CD4+, and CD8+ cells were studied. Only the mothers of the infants with open neural tube defects showed CD1+ cells in their peripheral blood.

Partial trisomy 13q identified by sequential fluorescence in situ hybridization.

We report on a 19-month-old boy with partial trisomy 13q resulting from a probable balanced translocation involving chromosomes 1 and 13. The infant presented with omphalocele, malrotation, microcephaly with overriding skull bones, micrognathia, apparently low-set ears, rocker-bottom feet, and congenital heart disease, findings suggestive of trisomy 13. Karyotypic studies from peripheral blood lymphocytes documented an unbalanced karyotype 46,XY,-1,+der(1). The mother's chromosomes were normal, and the father was not available. Conventional cytogenetic techniques were unable to identify the extra material on the terminal 1q. Using fluorescence in situ hybridization (FISH) on the GTL-banded metaphases, the extra material on 1q was identified as the terminal long arm of 13, thus resulting in partial trisomy 13 (q32-qter).

Cytogenetic findings in acute monocytic leukemia in a renal allograft recipient.

Chromosome analysis of bone marrow cells from a patient with acute monocytic leukemia, who had had a renal transplant followed by immunosuppressive treatment 45 months prior to the onset of leukemia, showed an unusual karyotype: 48,XX,+8,+8, t(1q12----pter::11q12----qter), t(4p12----qter::6p11----pter),t(7p22----qter::12q23 ----qter?), t(1q11----qter::17p11----11qter).

The response of the myocardial metabolism to atrial pacing in patients with coronary slow flow.

The pathophysiology of angina pectoris is not precisely known yet in patients who have no coronary lesion but slow coronary flow by angiography. In this study we aim to display metabolic ischemia via atrial pacing to determine the difference of lactate production and arterio-venous O2 content difference (AVO2). Thirty-four patients with slow coronary flow detected by coronary angiography via the TIMI 'frame count' method were included in this study. The resting and stress images from the patients undergoing myocardial perfusion tomography were recorded, pre and postpacing lactate extraction and AVO2 content difference values were calculated. Patients were classified according to their metabolic responses to atrial pacing stress. Group I consisted of 28 patients (18 male, 10 female, mean age 54.42 +/- 9.61) who did not demonstrate metabolic ischemia and group II consisted of six patients (four male, two female, mean age 60 +/- 5.76) who had metabolic ischemia after the procedure. There was no statistically significant difference between prepacing AVO2 content difference in group I (57.38+/-2.05%) and group II (58.23 +/- 2.11%) (P = NS). However postpacing AVO2 content difference of group I and group II was statistically significant (respectively, 57.96+/-2.65 vs. 68.35 +/- 2.15%, P < 0.001). In other words, postpacing AVO2 content difference was unchanged from the basal AVO2 content difference level in group I (respectively, 57.38 +/- 2.05 vs. 57.96 +/- 2.65%; P = NS) in contrast to the postpacing AVO2 content difference which increased significantly in group II (58.23 +/- 2.11 vs. 68.35 +/- 2.15%; P < 0.028). Although basal lactate extraction rates were similar in groups I and II (respectively, 0.24 +/- 0.1 vs. 0.23 +/- 0.18; P = NS), postpacing lactate extraction rates were decreased significantly in the two groups, prominently in group II (0.154 +/- 0.15 vs. -0.471 +/- 0.27; P < 0.0001) which indicated that lactate extraction converted to lactate production. Metabolic ischemia was detected in only 17.6% of patients included in this study and 83.4% of these six patients with proven metabolic ischemia had perfusion defects in scintigraphy. Our data confirmed that angina pectoris was not originated from myocardial ischemia in most of the patients with slow coronary flow. We conclude that perfusion scintigraphy is a reliable and accurate method for detection of true ischemia in this group of patients.

Cerebro-oculo-nasal syndrome: another case and review of the literature.

Cerebro-Oculo-Nasal syndrome; a new multiple congenital anomaly/mental retardation syndrome was first reported by Richieri-Costa and Guion-Almeida in 1993 (Am J Med Genet 47:702-706) in two patients. To the best of our knowledge four additional cases have been reported. The main features of the syndrome are anophthalmia/microphthalmia, abnormal nares, and central nervous system anomalies. In this report, an additional sporadic case of this syndrome is presented. A 6-year-old girl from a non-consanguineous couple with normal prenatal growth parameters and retarded postnatal growth had anophthalmia, uplifted right nares with skin tag, and slight clefting at the tip of the nose, upper lip and gingiva. She also had a high-arched narrow palate, slightly low set ears, hypertelorism, a CNS defect and mental retardation. Additional findings were hypoplastic teeth with dental malocclusion, muscular hypotonia and midline hyperpigmentation over the anterior neck and the abdomen.

Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome.

We report a pair of siblings who exhibit findings similar to those described in Heimler's syndrome, namely sensori- neural hearing loss diagnosed after the first year of life and enamel hypoplasia with normal primary dentition. Nail findings of Beau's lines and leukonychia which were described in the previous cases are absent to questionable in our patients. Our findings support the theory of autosomal recessive inheritance for Heimler's syndrome. To our knowledge there have been only three cases reported previously and the gene location has yet to be determined.

Kabuki make-up syndrome and hearing impairment.

In 1981, Niikawa et al. and Kuroki et al. independently described patients with a new syndrome consisting of mental retardation, postnatal growth deficiency and unusual facial features such as long palpebral fissures with eversion of the lateral one-third of the lower eyelids, arched and laterally sparse eyebrows and large prominent ears among other malformations. The condition has been called Kabuki make-up syndrome because the facial features in affected individuals resemble the make-up of the actors in a Japanese play: Kabuki. After the initial reports on Japanese individuals, the condition has been observed in several other patients of different ethnic origins including a few patients from this country (Kaiser-Kupfer et al., 1986; Pagon et al., 1986). We describe an additional 13-year-old male patient with Kabuki make-up syndrome with possible implication of autosomal dominant inheritance from his mother. Interestingly, our patient also displayed hitherto unreported severe ossicular malformations resulting in significant hearing impairment.

Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand).

Fourteen cases of Robinow syndrome are described with special emphasis on dermatoglyphics and hand malformations (split hands were detected in two, ectrodactyly with nail hypoplasia in one and hypoplastic extra middle finger in another one). Dermatoglyphic studies were performed on ten cases. Increased whorl patterns of the finger tips and a single large palmar hypothenar whorl pattern associated with distally displaced axial triradii were detected. These have not previously been described.

Aase-Smith syndrome: report of a new case with unusual features.

A new case of Aase-Smith syndrome has been reported with additional findings, including microcephaly, axial rotation of the kidneys, preaxial polydactyly and leukopenia. The patient had almost complete clinical remission with corticosteroid treatment. The findings in this case suggest that it is very difficult to differentiate Aase-Smith syndrome from Blackfan-Diamond and Fanconi's anemias as well as from those cases reported by Murphy and Lubin, and Jones and Thompson.

Preimplantation genetic diagnosis: prevention of serious genetic disorders.

Couples who are at high risk of passing a severe debilitating genetic disorder on to their offspring now have an option for preventing their future child from being affected by the disorder. The new field in medical genetics, preimplantation genetic diagnosis (PGD), involves testing single cells biopsied from in-vitro derived preimplantation stage (approximately 8-cell) preembryos and assessing each of them as to whether it is affected or not. Thus, PGD dramatically reduces the risk of a couple having a child afflicted with a genetic disorder by diagnosing an affected preembryo before it is transferred to the mother for implantation and establishment of pregnancy. This preventive procedure allows parents who are known carriers of a severe genetic disease to have unaffected children.

Huntington disease: a detective story.

As recombinant DNA diagnoses of various inherited diseases become a standard medical procedure, the practicing physician will be required to identify families at risk and counsel them (or refer them) appropriately. In many families the risk may not be immediately obvious or a reliable risk figure may appear to be unattainable. In the case presented, the patient had an apparent 50% risk for Huntington disease and all the immediate affected relatives were deceased. This relatively common scenario would generally prevent recombinant DNA diagnostic procedures from arriving at a more accurate risk estimate. Nevertheless, by recombinant DNA analysis, a risk for Huntington disease of less than 1% was obtained. Several key aspects of genetic analysis were required including extensive family histories, identification of informative markers, ordering the markers around the disease gene and appropriate statistical analyses. These discussions illustrate the power of recombinant DNA techniques to detect genetic disorders and demonstrate why they will be of increasing importance to the practicing physician.

Clinical expression of myotonic dystrophy: the predictive role of DNA diagnosis.

Myotonic dystrophy (DM), the most common muscular dystrophy of adult life, presents with a variety of clinical and genetic challenges to all involved; patients, their families, and clinicians. The clinical picture is extremely variable and may range from mild adult onset myotonia to severe congenital hypotonia associated with respiratory distress. An infant born to a mother with DM had remarkable hypotonia, expressionless face, respiratory difficulties, and club feet. Direct molecular genetic testing of the newborn and the mother showed trinucleotide repeat expansion mutations. Genetic counseling issues as well as the value of prenatal diagnosis are presented.