Egyptian propolis and selenium nanoparticles against murine trichinosis: a novel therapeutic insight.

Trichinosis is a serious zoonotic disease that causes human morbidity and mortality. New effective natural remedies with minimal side effects that are well tolerated are needed to treat both enteral and parenteral trichinosis. This study evaluated the efficacy of selenium (Se), Se nanoparticles (SeNPs) and Egyptian propolis compared with albendazole as antiparasitic, anti-inflammatory and anti-angiogenic agents for treating murine trichinosis. We used parasitological, histopathological and immunohistochemical assays, as well as scanning electron microscopy, to examine adult worms. Overall, 80 Swiss albino male mice were divided into eight groups, with ten mice in each group, as follows: negative control, positive control, albendazole, propolis, Se, combination of propolis and Se, SeNPs and combination of SeNPs and propolis. Mice were slaughtered seven and 35 days after infection to examine the intestinal and muscular phases, respectively. This study demonstrated the efficacy of the combination of SeNPs and propolis. As revealed by electron microscopy, this combination caused damage to the adult worm cuticle. Additionally, compared with albendazole, it resulted in a significant reduction in adult worm and total larval counts; moreover, it caused a decrease in the number of larvae deposited in muscles, with a highly significant decrease in the inflammatory cell infiltrate around the larvae and a considerable decrease in the expression of the angiogenic marker vascular endothelial growth factor in muscles. In conclusion, the combination of SeNPs and propolis had antiparasitic, anti-inflammatory and anti-angiogenic effects on trichinosis. Consequently, this combination could be used as a natural alternative therapy to albendazole for treating trichinosis.

Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot?

We report on 3 brothers with hypertelorism, hypospadias, and tetralogy of Fallot. Parents are first cousins once removed; the father has apparent hypertelorism. An apparently normal paternal uncle who is married to a second cousin also has a daughter with hypertelorism and tetralogy of Fallot. All similarly affected relatives have mild or borderline mental retardation. The combination of anomalies may represent a previously undescribed autosomal recessive disorder.

Nonsyndromal anencephaly: possible autosomal recessive variant.

The recurrence of anencephaly in families has been explained on a multifactorial basis. We present two unrelated families with three sibships of several nonsyndromal anencephalics including two pairs of concordantly affected like-sex twins. A rare autosomal recessive variant is proposed and inheritance is discussed in view of parental consanguinity among the two affected sibships in one family.

Direct duplication of chromosome 1, dir dup(1)(p21.2----p32) in a Bedouin boy with multiple congenital anomalies.

Here we describe a Bedouin boy with a de novo duplication of 1p and multiple congenital anomalies. He had microcephaly, convergent squint, anteverted nostrils, malformed ears, micrognathia, hypoplasia of the terminal phalanges, clinodactyly of 5th fingers, simian creases, left inguinal hernia, cryptorchidism, and severe postnatal growth retardation. Our clinical findings are compared with those of previous reports of duplication involving chromosome 1p.

Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed.

We are reporting on 16 children, in 6 unrelated sibships, born to healthy, consanguineous parents of Bedouin ancestry. Eleven of them were assessed clinically. All presented with marked growth retardation, craniofacial anomalies, small hands and feet, hypocalcemia, hypoparathyroidism, radiological evidence of cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull. There was a history of 6 affected sibs dying in infancy with hypocalcemic convulsions. All cases show absence of macrocephaly and early psychomotor retardation. The present cases confirm the presence of clinical variability and co firm autosomal recessive inheritance of Kenny-Caffey syndrome.

Late diagnosis of phenylketonuria in a Bedouin mother.

We report on the first case of phenylketonuria in a Bedouin woman with 3 children having the phenylketonuria embryofetopathy. Herein, we discuss briefly hazards of late diagnosis of maternal phenylketonuria.

Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family.

We report on the first known Bedouin family with Greig cephalopolysyndactyly syndrome (MIM 175700). The index patient and his father shared pre- and postaxial polysyndactyly, mild mental retardation, and corpus callosum dysgenesis. Their phenotypic findings were compared with reported cases of both Greig cephalopolysyndactyly (GCPS) and acrocallosal syndromes. This family represents the second report of the rare occurrence of dysgenesis of the corpus callosum in GCPS.

Another Arab patient with overlap of Váradi-Papp/Opitz trigonocephaly syndromes?

We describe a Bedouin boy with multiple congenital anomalies/mental retardation (MCA/MR). He has frontal bossing, ridged metopic suture, bilateral ptosis, right squint, depressed nasal bridge, small nose, anteverted nostrils, lobulated tongue, polydactyly of both hands, microphallus, hypoplastic scrotum, microtestes, dysgenesis of corpus callosum, and a Dandy-Walker variant. This phenotype overlaps both the Varadi-Papp syndrome (OFD VI) and Opitz trigonocephaly (C syndrome). This phenotypic overlap is discussed in light of the concept of splitting and lumping in genetic diseases.

Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females.

We describe 3 sibs, two females and a male, with hypogonadism, defective Müllerian development in the sisters, and partial alopecia consisting of cranial hair only in the center of the scalp. One sister had absent gonads, the other had streak ovaries; both had markedly hypoplastic internal genitalia. Their brother had hormonal and histologic findings consistent with germinal cell aplasia. In view of the fact that the parents were consanguineous, autosomal recessive inheritance of the syndrome is likely.

Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)].

A severely malformed girl died 7 days after birth and was found to have de novo interstitial deletion of 1q (1q32----1q42). Clinical abnormalities included microcephaly, encephalocele, small eyes with unilateral esotropia, hypertelorism but small prominent nose, highly arched palate, micrognathia, abnormal cry, apparently abnormal low-set ears, short neck with low posterior hair line, narrow shoulders, congenital heart defect, hypoplastic nails, overlap of toes with flat feet, and single umbilical artery.

Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease.

We present data on 10 patients from 5 families with a condition of microcephaly, intracranial calcification, and a clinical course resembling congenital TORCH infection. Repeatedly, negative TORCH investigations are a prerequisite for the identification of this disorder and the value of disturbed liver function and thrombocytopenia as aids to diagnosis is emphasised. Several similar families with recurrence of the disease in sibships are identified in the literature and the genetic implications of our observations are considered.

Familial uterine hernia syndrome: report of an Arab family with four affected males.

We report an Arab Bedouin family including four males with uterine hernia syndrome. All had a male chromosome constitution and phenotype, inguinal herniae, cryptochidism, and persistence of Müllerian derivatives. Histopathological studies confirmed the presence of both testicular tissue and Müllerian derivatives. The presence of two affected brothers and two affected maternal uncles suggests X-linked inheritance. Autosomal recessive determination with male sex limitation is also a possibility based on parental consanguinity in one sibship.

Ullrich-Turner syndrome in monozygotic twins.

We report on the Ullrich-Turner syndrome in monozygotic twin sisters. The first twin had the syndrome with a 45,X chromosome constitution. The second twin had only minor manifestations of the syndrome with 46,XX/45,X mosaicism. The literature on the Ullrich-Turner syndrome in twins is reviewed.

Persistent Mullerian duct syndrome: report of two boys with associated crossed testicular ectopia.

Persistent Mullerian duct structures and crossed testicular ectopia were found in two phenotypically normal, unrelated males, with 46,XY karyotype, during routine herniorrhaphy. In each case, the vascular supply to the ectopic testis originated from the appropriate ipsilateral side. The clinical significance and genetic implications of this rare association are discussed.

Swyer syndrome: an unusual presentation.

We report a 27-year-old XY female who presented with abdominal pain due to hemoperitoneum from a ruptured abdominal mass. Gonadoblastoma overgrown by endodermal sinus tumor and dysgerminoma was detected. The risk of neoplasia in such cases is discussed.

New syndromic entity of situs inversus totalis.

A 22-year-old Bedouin female with MCA/MR has been recently ascertained. She showed profound mental retardation, proportionate short stature, facial dysmorphism, spastic quadreparesis, bilateral taliper equinovarus, brachydactyly, situs inversus totalis, and MRI findings of cerebellar/midbrain migration defects. The described phenotype represents a new syndromic situs inversus with a characteristic Facio-Cerebro-Skeleto-Cardiac phenotype.

The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family.

We describe a Bedouin family with the rare autosomal recessive infection-like syndrome of microcephaly, intracranial calcification and CNS disease that has so far been documented in only eight families including one from Kuwait. In the present family, the female proband had congenital microbrachycephaly, hypertonia, early-onset tonic-clonic seizures, a palpable liver and mild pulmonary stenosis. Follow-up examination of the girl identified delayed developmental milestones while head CT scan revealed partial agenesis of the corpus callosum, brain atrophy, dilated ventricles and scattered calcific foci in the caudate nuclei, the thalami, and the periventricular white matter. The possibility of intrauterine TORCH infection was excluded by the negative results of repeated immunovirology study and by the failure to recover viral inclusions in urine cultures. The proband had three apparently affected cousins with spasticity and CT findings of microcephaly and intracranial calcification. Other previously documented cases with the congenital intrauterine infection-like syndrome are reviewed.

Familial jejunal atresia with 'apple-peel' variant.

We report two siblings who had jejunal atresia which we believe to be familial. The parents of these siblings were first cousins. The first child had jejunal atresia with mesenteric agenesis and 'apple-peel' configuration; the second child had jejunal atresia with a V-shaped mesenteric defect. Other reported cases of familial atresia of the small intestine are reviewed.

Segregation of acrocentric chromosome association in familial dicentric Robertsonian translocation t(14p;22p), aneuploidy (trisomy-21) and heteromorphism.

The frequency and types of acrocentric chromosome association were quantitatively analysed in a Down syndrome child with unusual karyotype, 46, XX, -14, -22, t dic (14p;22p), +21, 21S+. Father and 4 sibs were heterozygous carriers for t dic (14p;22p). The variant 21S+ was inherited from the mother. The occurrence of translocation and trisomy in the same individual is extremely rare. Acrocentric chromosome association was analysed in this interesting family to understand the interrelationship of acrocentric chromosome association, Robertsonian translocation and heteromorphism, as possible predisposing factors for nondisjunction. Our findings suggest that acrocentric chromosome association is a heritable and nonrandom phenomenon. Heterozygous carriers for translocations and variants are likely to be at increased risk of nondisjunction. Long term family studies will enable to ascertain the causal-relationship of these factors more precisely.