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Cryptosporidium species are enteric apicomplexan parasites associated with diarrhoeal disease in humans and animals globally. Waterborne outbreaks resulting from contamination with the infective oocysts are common worldwide. Updated reports on waterborne protozoal infections are needed to identify emerging pathogens and susceptible populations. Therefore, this study aimed to assess the current profile of Cryptosporidium contamination of various water sources in Sharqia Governorate, Northeastern Egypt. For this purpose, eighty samples were collected from five different water types (canal, tap, tank, filtered, and groundwater), distributed in four major cities (El-Hessenia, Fakous, Zagazig, and Belbies) in Sharqia Governorate. All water samples were examined using conventional microscopy, ELISA, and real-time PCR (RT-PCR) techniques. Based on microscopic analysis, the Cryptosporidium protozoan was identified in 25% of the tested water samples. The RT-PCR assay has allowed for the quantification of Cryptosporidium oocysts in different types of water. Canal water exhibited the highest Cryptosporidium contamination levels (mean = 85.15 oocysts/L), followed by water tanks (mean = 12.031 oocysts/L). The study also provided a comparative evaluation of ELISA and RT-PCR for the diagnosis of Cryptosporidium infection. RT-PCR performed better than ELISA in terms of analytical accuracy (97.50% vs. 86.25%) and specificity (100% vs. 83.33%). However, ELISA showed a higher sensitivity (95.00% vs. 90.00%) for Cryptosporidium recovery. Our findings could serve as a platform for further investigations into the potential risks associated with water contamination in Sharqia Governorate., Supplementary Information: The online version contains supplementary material available at 10.1007/s12639-024-01675-1., Competing Interests: Conflict of interestThe authors have no relevant financial or non-financial interests to disclose., (© Indian Society for Parasitology 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.)

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.

Toxoplasmosis is one of the widest spread parasitic infections which is caused by Toxoplasma gondii protozoon. Many experimental studies have evaluated the effect of aminoguanidine upon parasitic load and inflammatory process. However, few reports have illustrated the impact of combining aminoguanidine with spiramycin in the treatment of toxoplasmosis. Therefore, our study aimed to explore the possible effects of spiramycin used alone and combined with aminoguanidine against the avirulent (ME49) Toxoplasma gondii strain in experimental toxoplasmosis. Fifty-five Swiss albino mice were included in the study and were divided into five groups: (GI): non-infected control group; (GII): infected untreated control group; (GIII): infected- spiramycin treated group; (GIV): infected-aminoguanidine treated group; (GV): infected and received combination of spiramycin and aminoguanidine. Obtained results exhibited a significant increase in brain cysts numbers in aminoguanidine treated groups compared to infected untreated control groups. Histopathological studies denoted that combination between spiramycin and aminoguanidine improved the pathological features only in liver and heart tissues of the studied groups. Moreover, it was noticed that spiramycin administered alone had no effect on nitric oxide expression, whereas its combination with aminoguanidine had an inhibitory effect on inducible nitric oxide synthase enzyme in brain, liver and heart tissues of different study groups. In conclusion, the combination of spiramycin and aminoguanidine significantly reduced the parasitic burden, yet, it failed to resolve the pathological sequels in brain tissues of Toxoplasma gondii infected mice., Competing Interests: Conflict of interestThe authors report no conflicts of interest regarding the publication of this manuscript., (© Indian Society for Parasitology 2021.)

Cryptosporidiosis is a gastrointestinal disease of humans and other animals, caused by the genus Cryptosporidium spp. It causes persistent diarrhea and malnutrition and is associated with increased mortality. This study aimed to assess the efficacy of nitazoxanide (NTZ) on clearing the oocysts of C. parvum among infected children using both parasitological and PCR techniques.120 children (1-12y) shedding Cryptosporidium oocysts in their stools were enrolled in the study. They were classified on the basis of the immune status into immunocompetent (ICT) and immunocompromised (ICZ) groups. Each group were subdivided into two groups one of them received'NTZ, and the other received placebo. The efficacy of nitazoxanide was assessed clinically, parasitologically and by nested-PCR technique. At the end of 1st week of treatment, 80% of ICT/ NTZ group and 40% of ICT/ placebo group were free by PCR and 83.3% & 20% respectively were microscopically free. While at the end of 4th week, 93.3% of ICT/NTZ group and 43.3% of ICT/ placebo group were free by PCR and 96.7% & 26.7% respectively were microscopically free. Among the ICZ group, diarrhea was resolved in most patients receiving NTZ within 21 to 28 days of treatment initiation While, it resolved in the ICT group receiving NTZ in most patients within 3 to 5 days of treatment initiation.

The internal defense system consists of soluble components of hemolymph and circulating cells known as hemocytes. The circulating hemocytes play a central role in innate immunity. This work aimed to study the hemocytes of both susceptible and resistant B. alexandrina snails exposed to S. mansoni infection using light and electron microscopes. Two tested groups were included in the study; 60 susceptible and 60 resistant B. alexandrina snails. Both tested groups were studied as regad the hemocyte count (before and after infection) and the morphological characteristics of both circulating and tissue hemocytes by light and electron microscopes. Before infection, .there was no significant difference between the two groups as regard the hemocyte count, however after infection, there is a significant decrease in the circulating hemocytes of the resistant group. Light microscopy revealed five morphological types of circulating cells of both susceptible and resistant snails. Regarding scannig electron microscopy, hemocytes of susceptible snails appeared rounded with smooth or slightly rough surface. However, that of the resistant snails appeared irregular in shaped with corrugated surface. Furthermore, Light microscopy and the transmission electron microscopy revealed signs of cell activation in the hemocytes of the resistant group. The circulating hemocytes consist of five cell types in both susceptible and resistant B. alexandarina and morphologies of these cells are quite similar, but with more signs of cell activations in the resistant group. More specific studies on the functional activities of the hemocytes and mechanisms that may affect or influence the susceptibility and/or non-susceptibility of molluscs to invade microorganisms is essential and how they can act in the immune response.

Giardia intestinalis is one of the most common diarrhea-causing protozoa. The present study aimed to search for specific and sensitive diagnostic tests to avoid loss of infected cases with Giardia intestinalis by detection of G. intestinalis coproantigens in diarrheic samples through comparison between direct parasitological method, an enzyme linked immunosorbent assay (ELISA) and immunochromatographic test (ICT). A comparative cross-sectional study including 75 cases suffering from diarrhea and other gastrointestinal symptoms suggestive of intestinal giardiasis as abdominal distention, abdominal pain, anorexia, nausea, vomiting and weight loss, and 25 cases were without any clinical manifestations enrolled in this study. For every case, complete history taking and full clinical examination were done. Stool samples were collected from all cases and investigated by direct parasitological method, ELISA, and immunochromatographic techniques. The results showed that the sensitivity of immunochromatographic technique was 96% and specificity was 96% while sensitivity of ELISA was 98% and specificity was 96% on comparing their results to the microscopic examination of stool samples for Giardia intestinalis.

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.

We describe a Libyan boy with an unusual phenotype of multiple congenital anomalies, including triophthalmia, dolichocephaly, porencephaly, cleft lip/palate, facial asymmetry, micrognathia, and VSD. The reported phenotype is likely to represent a new entity of non-chromosomal syndromic triophthalmia. Other possibilities are discussed.

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.

Clinico-radiological assessment of three mentally retarded members of a large Bedouin kindred showed lissencephaly, spastic paraparesis, myoclonic epilepsy and cerebellar hypoplasia. It seems that the familial association of lissencephaly/myoclonic epilepsy/cerebellar hypoplasia represents a new entity.

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.

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.

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.

A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously described rare association of femoral hypoplasia-unusual facies syndrome with preaxial polydactyly and suggests that the clinical spectrum of the syndrome could be stretched further to accommodate other unusual traits, for example, macrophallus and absent tibia.

A 3-year-6-month old Lebanese female child with multiple congenital anomalies including, facial dysmorphism, prominent low set ears, micrognathia, anti-mongoloid palpebral fissures and psychomotor retardation was investigated. Her karyotype showed de novo 46, XX, dir dup (7)(p11.2-->pter). The phenotypic manifestations in dir dup (7p) cases are briefly reviewed. Our observations in combination with other similar cases suggest that 7p trisomy due to dir dup (7p) can be regarded as a defined chromosome syndrome.

A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed.

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.

Two young, unrelated multiplex families with Bedouin ancestors, each confirmed to have 3 sibs with recurrent regular trisomy-21 are reported. Low grade mosaicism for trisomy-21 (3/350 cells) was confirmed in the mother in one of the families but not in the other. However, two of the relatives (first degree) were confirmed to have Down syndrome. The recurrence risk for trisomy-21 based on livebirth and prenatal diagnosis data were estimated at 1 to 2 percent for couples 35 years old or younger at the time of conception. However, such risk estimates are not available for recurrence of simple trisomy-21 to a particular couple (<35 years). Clustering of trisomy-21, trisomy-18 has been reported among Bedouins. The possibility of cryptic parental mosaicism as well as <> should be considered in genetic counselling of families with sibships of regular trisomy-21 or other aneuploidy.

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.

In this preliminary report we summarize the results of a 4-year multidisciplinary systematic, etiological clinicogenetic survey of 400 institutionalized mentally retarded patients in Kuwait. All had an intelligence quotient below 50. A constitutional disorder, as the direct cause of the mental retardation, was found in 203 patients (50.75%)): a chromosomal abnormality in 37 (9.25%), Mendelian disorders in 137 (34.25%), MCA/MR in 22 (5.55%) and CNS malformations in 7 cases (1.75%). In 157 patients (39.35%) a pre-, peri or postnatal cause was ascertained. No etiological diagnosis was detected in 40 patients (10%). A detailed analysis of the "disease profile" is given and compared with the results of previous diagnostic genetic surveys among different institutionalized mentally retarded populations in Western and developing countries.

A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.

A 10-year-old female with right oblique inguinal hernia was investigated to exclude an XY karyotype. Chromosome analysis of peripheral blood showed 46,XX,inv(13)(p13;q11). In vitro aneuploidy was observed in two cells: a) 46,XX,inv(13), inv(13); b) 47,XX, +inv(13). Her father and three sisters were carriers for inv(13). Herein the authors review briefly familial inv(13)'s and report a new variant involving breakpoints (p13;q11).

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.

Two male Arab sibs are reported with congenital heart disease and skeletal malformations. Other published case reports sharing some features in common with these brothers are considered. However, clinical and radiological features in these boys are distinct enough to represent a new cardioskeletal syndrome.

Five Bedouin sibs are described with Meckel-Gruber syndrome (MGS), an autosomal recessive disorder with multiple abnormalities. Each affected sib manifested only two of the three cardinal signs of MGS: occipital encephalocele and polycystic kidneys, lacking polydactyly. The phenotypic variability of the MGS pleiotropic gene is briefly discussed.

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.

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.

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.

During a 7-year-period (1980-1986) trisomy 21 was confirmed in 635 cases (257 males and 278 females). There were 611 cases of trisomy 21 (96.2%), 12 of different translocations (1.9%), 9 of mosaicism (1.4%), and 3 with nonclassical karyotypes (0.5%). The frequency of chromosome aberrations in our study is compared to that of major world-wide cytogenetic surveys comprising 17,738 Down syndrome cases. These surveys showed that regular trisomy 21 constitutes 92.9%, translocations 4.3%, mosaicism 2.2%, and nonclassical karyotypes 0.5%.