[Surgical treatment of achalasia - endoscopic or laparoscopic? : Proposal for a tailored approach]. / Operative Therapie bei Achalasie ­ endoskopisch oder laparoskopisch? : Vorschlag für die maßgeschneiderte Verfahrenswahl.

Primary idiopathic achalasia is the most common form of the rare esophageal motility disorders. A curative therapy which restores the normal motility does not exist; however, the therapeutic principle of cardiomyotomy according to Ernst Heller leads to excellent symptom control in the majority of cases. The established standard approach is Heller myotomy through the laparoscopic route (LHM), combined with Dor anterior fundoplication for reflux prophylaxis/therapy. At least four meta-analyses of randomized controlled trials (RCTs) have demonstrated superiority of LHM over pneumatic dilation (PD); therefore, LHM should be used as first line therapy (without prior PD) in all operable patients. Peroral endoscopic myotomy (POEM) is a new alternative approach, which enables Heller myotomy to be performed though the endoscopic submucosal route. The POEM procedure has a low complication rate and also leads to good control of dysphagia but reflux rates can possibly be slightly higher (20-30%). Long-term results of POEM are still scarce and the results of the prospective randomized multicenter trial POEM vs. LHM are not yet available; however, POEM seems to be the preferred treatment option for certain indications. Within the framework of the tailored approach for achalasia management of POEM vs. LHM established in Würzburg, we recommend long-segment POEM for patients with type III achalasia (spasmodic) and other hypercontractile motility disorders and potentially type II achalasia (panesophageal compression) with chest pain as the lead symptom, whereas LHM can also be selected for type I. For sigmoid achalasia, especially with siphon-like transformation of the esophagogastric junction, simultaneous hiatal hernia and epiphrenic diverticula, LHM is still the preferred approach. The choice of the procedure for revisional surgery in case of recurrent dysphagia depends on the suspected mechanism (morphological vs. functional/neuromotor).

Infantile CNS spongy degeneration--14 cases: clinical update.

We studied 14 Arab infants with infantile spongy degeneration, 13 of whom were products of consanguineous marriages. They presented in infancy with macrocephaly, poor visual behavior or blindness, and axial hypotonia with appendicular spasticity. Brain CT and MRI showed diffuse symmetric leukoencephalopathy, even before neurologic symptoms. There were relatively normal EEGs. The visual evoked responses (P100) were either absent or delayed early in the course. The brainstem auditory evoked responses showed milder abnormalities, with loss of later components before the earlier ones. Deficient aspartoacylase activity in cultured fibroblasts or brain biopsy confirmed the diagnosis in all patients.

Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase.

We describe the clinical, neurologic, and biochemical findings in 10 patients with 6-pyruvoyl tetrahydropterin synthase (6-PTS) deficiency from seven families, all of whom originate from one large tribe in Saudi Arabia. This deficiency presents with severe, early onset of failure to thrive, neurologic deterioration, and morbidity and mortality secondary to repeated episodes of bronchopneumonia or cardiorespiratory abnormalities. The urinary pterin excretion pattern indicates deficient activity of 6-PTS, which has been confirmed by direct enzyme assay in red blood cells of three patients. We treated our patients with combined use of tetrahydrobiopterin 20 mg/kg/d, L-dihydroxyphenylalanine 15 mg/kg/d, carbidopa 3.75 mg/kg/d, and L-5-hydroxytryptophan 5 mg/kg/d. Neurologic findings improved significantly in all after 5 to 24 months. Although head circumference and weight returned to the lower limit of normal in four, height normalized only in one of seven patients. Despite an unrestricted diet during combined therapy, blood phenylalanine and urinary excretion of neopterin and biopterin returned to normal.

Childhood brucellosis: a study of 102 cases.

One hundred two children, 45 days to 14 years of age, with proven brucellosis were studied to illustrate the epidemiologic, clinical and laboratory findings and to assess the outcome of antimicrobial therapy. The main source of infection was the consumption of raw milk in 80% of the patients. The predominant presenting symptoms and signs were fever, arthralgia, malaise, weight loss, arthritis, hepatosplenomegaly and lymphadenopathy. Brucella melitensis was isolated from 75% of 87 patients. Diverse hematologic and biochemical abnormalities were found. Different durations and combinations of trimethoprim-sulfamethoxazole or tetracycline plus streptomycin or rifampin were used for therapy. Eight-five patients were followed for an average of 14 months. Twelve (85.7%) of 14 patients treated with two-antibiotic combinations for 3 weeks relapsed, as did 5 (8%) of 62 patients treated for at least 6 weeks (P less than 0.001). No relapses occurred in 9 patients treated with trimethoprim-sulfamethoxazole and rifampin for 8 to 12 weeks plus streptomycin for the first 3 weeks. Longer duration and combination of antibiotic therapy seem warranted to improve outcome and to prevent relapses.

Nosocomial bacteraemia in a teaching hospital in Saudi Arabia.

During a period of one year, 117 episodes of nosocomial bacteraemia were documented at King Khalid University Hospital, an incidence of 5 per 1000 admissions. Sixty-two percent were gram-negative organisms with Escherichia coli, Klebsiella spp., Serratia spp. and Pseudomonas spp. being the most frequent. Staphylococcus aureus was the most common gram-positive organism isolated. The source of infection was identified in 75% of patients. Intravenous lines accounted for a high proportion of cases (22%). Most deaths occurred in infants and patients with serious underlying disease.

4-Hydroxybutyric aciduria.

The clinical findings in six patients from three families with 4-hydroxybutyric aciduria are described. The onset of disease was in early infancy in all cases. All infants presented with severe global delay and severe hypotonia, and all patients had seizure disorder. Eye findings included optic atrophy in two patients, and retinitis pigmentosa in one. Three patients had choreoathetosis, two had myoclonus and one had severe dystonia. The urine 4-hydroxybutyric acid was 300-1000 times that of normal, and other organic acids related to its further metabolism or to its inhibitory effect on beta-oxidation were also increased. The administration of vigabatrine rapidly reduced the excretion of 4-hydroxybutyric acid promptly, and in the long-term its excretion could be kept at 80-200 times that of normal. However, the clinical course of the disease improved in only two, remained the same in two, and worsened in the remaining two patients.

Management of acute childhood diarrhoea in Saudi Arabia: practices versus the WHO recommendations.

The fluid management of 247 infants and children who were admitted to King Fahad Hospital at Al Baha, Saudi Arabia with acute diarrhoea was reviewed. Half of them were infants and 25% were exclusively breast fed. Although dehydration was mild in 149 (60.3%) patients and 227 (92.7%) were at the most moderately dehydrated, as many as 95.8% were given intravenous (IV) hydration at least initially. This indicates that the WHO recommendation to prescribe oral rehydrating solution (ORS) for the control of diarrhoeal diseases, is still not implemented at some of the regional hospitals in Saudi Arabia, and emphasizes the need for urgent and effective efforts to rectify this situation.

PIP: Acute diarrhea remains a major cause of morbidity and mortality among infants and children in developing countries accounting for up to 20% of admissions to pediatric wards in Saudi Arabia. Oral rehydration therapy is recognized by the WHO as being a safe and effective way to treat this manifestation of infectious disease, but many physicians are reluctant to adopt its practice. 247 of the infants and children admitted to King Fahad Hospital at Al Baha, Saudi Arabia between July 1, 1990 and June 30, 1991, suffered from acute diarrhea. This paper reviews the fluid management of these patients to determine whether and to what extent WHO guidelines are being followed. Half of the patients were infants and 25% were exclusively breastfed. The mean duration of diarrhea at the time of presentation was 3.8 days in a range of 1-8 days. Although only mild dehydration was observed in 149 of the patients and moderate dehydration in 227, 95.8% were nonetheless given intravenous hydration initially for the first 24 hours. These findings suggest that the WHO recommendation to prescribe oral rehydration solution to control diarrheal diseases is not being implemented at some regional hospitals in Saudi Arabia.

Effect of moderately high altitude on the pattern of lung disease.

In high altitude areas, inspired atmosphere oxygen decrease proportionally to the vertical distance from sea level. Population in these areas some adaptive mechanisms to cope with the relatively hypoxic environment. This study compares populations who live in highland areas (2500 meters above sea level) with those in lowland areas (close to sea level). No differences were observed in the prevalence or mortality rate of respiratory diseases between these two groups. It is concluded that even if adaptive mechanisms can be observed in dwellers of moderately high altitude (<3000 m above sea level), such altitude does not adversely affect the pattern of respiratory disease in these populations. However, partial pressure of oxygen (PaO2) tends to be lower in individuals of high altitude areas, leading to marked oxygen desaturation when such individuals encounter a significant respiratory illness. Physicians are advised to introduce early and effective therapeutic measures before such deterioration occurs.

A clinical study of mentally retarded children with fragile X syndrome in Saudi Arabia.

BACKGROUND: Studies on fragile X syndrome are scarce in Saudi Arabia and other countries of the Arabian Peninsula. The few studies previously done have either been in the form of case reports or those performed on institutionalized mentally retarded patients. The aim of this study was to determine the prevalence of fragile X syndrome among cases with mental retardation who have been referred to the pediatric neurology clinics of King Khalid University Hospital (KKUH) in Riyadh. PATIENTS AND METHODS: Cytogenetic studies were performed in 94 cases who were referred to the pediatric neurology clinics of KKUH because of mental retardation and/or delayed milestones of development, from July 1995 to December 1997. RESULTS: Six male probands (6.4%) showed the classic fragile X chromosome and another six (including a four year-old girl) were detected, following extension of the cytogenetic studies to all 32 first-degree relatives. Affection of more than one sibling was ascertained in four families. One family had four brothers with fragile X syndrome, whereas another formed part of a large kindred with twelve males and five females who were mentally retarded. A clinical, physical and psychological screening checklist was applied to the eleven affected males. Large testicular size, long face and short attention span were the most frequent features, and each was detected in nine patients (82%). Pes planus and history of delayed speech were found in eight patients (73%). CONCLUSION: The study showed that the fragile X syndrome clinical screening checklist that has been applied in other populations might equally be valuable and applicable among the population of Saudi Arabia. However, the presence of pale blue eyes can be excluded and more weight given to positive family history of mental retardation. The study also highlighted the need for further emphasis on the orientation of primary care physicians to the most common clinical diagnostic features of fragile X syndrome.

Haematological manifestations of childhood brucellosis.

Very few data on the frequency and diversity of haematological abnormalities occurring in brucellosis in children have been reported. In the present study 110 children (56 boys and 54 girls; age range, 2 months to 14 years) with proven brucellosis were investigated to determine the haematological changes during the active course of this infection. Anaemia was detected in 48 (44%) patients, of whom four had evidence of haemolysis. Leukopenia occurred in 33% of the cases, with neutropenia and/or lymphopenia being the most striking features encountered. Thrombocytopenia was found in six (5%) patients and pancytopenia in 15 (14%) patients, of whom one developed disseminated intravascular coagulation. Clinically detectable bleeding occurred in five (4.5%) patients whose platelet counts were significantly low. Hypersplenism, haemophagocytosis and granulomatous lesions of the bone marrow appear to play a fundamental role in producing these abnormalities of the peripheral blood. Brucellosis may be considered in patients whose blood picture reveals haemolytic anaemia, leukopenia, thrombocytopenia or pancytopenia, particularly when the disease is epidemiologically suspected.

Intrafamilial transmission of hepatitis C virus (HCV): a major mode of spread in the Saudi Arabia population.

Age-specific prevalence of antibody to hepatitis C virus (anti-HCV) was studied in 831 Saudis (441 males, 390 females; 1-53 years old) from Al Baha region, south-west Saudi Arabia. There was a gradual exposure to HCV early in life with a gradual increase with age, reaching a peak of 5.3% in the 30-40 years age group. The overall prevalence was 3.6% and 3.1% in males and females, respectively, with no statistical difference. Comparison of positivity in family members of seven anti-HCV-positive index cases (15/44) with those of five anti-HCV-negative index cases (2/44) showed a statistically significant association (chi 2 10.5 with Yates' correction). This points to intrafamilial transmission of HCV as a route of spread among the Saudi population.

PIP: Over 90% of transfusion-related hepatitis is caused by non-A, non-B (NANB) hepatitis which has been diagnosed serologically by means of the recently cloned NANB agent designated hepatitis C virus (HCV) using a recombinant based assay. The age-specific prevalence of anti-HCV was studied in healthy Saudis, since silent carriers of NANB hepatitis occur among healthy blood donors as evidenced by a 10% rate of post transfusion hepatitis. In a prospective hospital-based study 381 children aged 1-14 treated for other ailments, 253 blood donors aged 15-53, and 192 pregnant women aged 15-38 were included who had no percutaneous exposure to blood. Also, 44 household members of 7 persons found anti-HCV positive were compared with 44 enzyme-linked immunosorbent assay (ELISA). Age-specific exposure to HCV peaked at 5.3% in the 20-40 age group after early childhood exposure. The prevalence of anti-HCV was 3.6% in males and 3/1% in females. A father and mother were found anti-HCV positive among household members of 7 anti-HCV positive cases. A 4-year old boy and a 7-year old boy in 2 families were found anti-HCV positive among household members of 5 anti-HCV-negative persons. Anti-HCV positivity in family members of HCV+index cases (15/44) was statistically significant compared with HCV index cases (2/44). Routine screening of donated blood is urged because of the high endemicity of HCV in Saudis, and the modes of transmission of HCV also requires further research.

Wolman's disease in a Jordanian infant.

We report a case of Wolman's disease that is apparently the first to be reported in a Jordanian infant. The clue to diagnosis was the radiological evidence of bilateral adrenal calcifications and foam cells in bone marrow. The disease was confirmed by skin fibroblast culture which showed decreased 'acid esterase' activity.

Horizontal versus vertical transmission of human immunodeficiency virus type 1 (HIV-1). Experience from southwestern Saudi Arabia.

Twenty-five confirmed cases of human immunodeficiency virus type 1 (HIV-1) infection due to blood transfusion have been documented at King Fahad Hospital (KFH) in Al-Baha, southwestern Saudi Arabia since 1986, but complete follow-up was only possible on 19 of these cases and their contacts. Seventeen cases were diagnosed as having acquired immunodeficiency syndrome (AIDS) or AIDS-related complex (ARC) after admission to the hospital due to the deterioration of their health status. Two cases were found to be anti-HIV-1 positive on routine screening for blood donation. This cluster of HIV-1 infected patients through blood transfusion allowed us to study the efficiency of sexual transmission of HIV-1 infection between spouses, the rate of perinatal transmission of HIV-1 infection, and to see whether intrafamilial transmission is a possible route of spread of the virus. Firstly, the present results confirm our earlier observation that transmission of HIV-1 infection was more efficient from the infected husband to his wife(s) in contrast to the inefficient transmission of the infection from the infected wife to her husband. Secondly, by the age of 16 months, all nine newborns to HIV-1 infected mothers became HIV-1 infected. This highlights the importance of medical advice to those mothers regarding conception and/or breast-feeding, particularly as breast-feeding up to 2 years is not an uncommon practice among Saudi women. Finally, none of the household contacts of the 19 cases was infected until now, indicating that intrafamilial spread of HIV-1 did not occur among the population studied.

PIP: In June 1986, screening for anti-HIV using enzyme immunoassay (EIA) started on all donated blood at King Fahad Hospital (KFH) in Al-Baha, southwestern Saudi Arabia. In December 1988, an HIV clinic was established at KFH and 25 adult cases were identified as HIV-1 positive who had a history of blood transfusion between 1982 and 1986. Follow-up was only possible in 19 of these cases and their contacts. When a person was found to be anti-HIV-1 positive, all family members were called for HIV testing. Contacts of HIV-1 positive patients were followed-up on a monthly basis, and those who were anti-HIV-1 positive were started on zidovudine therapy. Serum testing for anti-HIV and for HIV-Ag was done by enzyme-linked immunosorbent assays (ELISA) and confirmed by Western blot. The majority of cases were diagnosed as having AIDS (10/19) or ARC (5/19) after admission to the hospital. All AIDS cases died within 2 months after diagnosis, while those with ARC died within 1-2 years after the diagnosis. Two of the cases (cases 1 and 2) were found anti-HIV-1 positive on routine screening for blood donation, and 3 cases (cases 11, 17 and 18) were detected when their respective children were admitted and diagnosed as having AIDS. In case 6, as in case 7, the husband infected both wives. All children born before the mother had the blood transfusion and hence the infection were anti-HIV-1 negative and were still negative after 3-7 years of follow-up. In contrast, all 9 children born to HIV-1-positive mothers became infected. Although some of the infants had no evidence of infection up to 9 months of age or more, all became anti-HIV-1 positive and HIV-Ag positive by 16 months of age. These children had no blood transfusion during the 16 months period.

Seropositivity to hepatitis C virus (HCV) in Saudi children with chronic renal failure maintained on haemodialysis.

Twenty Saudi children (mean age: 7.7 years) with chronic renal failure who had received several blood transfusions were screened for antibodies to hepatitis C virus (anti-HCV), antibodies to the human immunodeficiency virus (anti-HIV) and antibodies to the various markers of hepatitis B virus (HBV). Prevalence of anti-HCV antibodies was significantly higher in these patients (45%) than in controls (1%) (p less than 0.001). In contrast, the exposure rate to HBV was similar in both groups (15.0% in patients vs 16.8% in controls). These results underscored the high risk of acquiring HCV infection in patients on haemodialysis irrespective of age. Currently, practices such as screening blood for HBsAg and other preventive measures seem to be effective in controlling HBV but not HCV infection in patients on haemodialysis. Perhaps, as with HBV, a stringent policy regarding HCV should be implemented if HCV is to be controlled. None of our patients or controls was anti-HIV positive.

Pattern of febrile illnesses in children seen at a pediatric ambulatory care setting.

BACKGROUND: Fever is the most common sign of childhood illnesses and febrile children constitute a substantial proportion of the practice of pediatrics and family medicine. OBJECTIVES: To highlight the pattern of febrile illnesses in children attending pediatric ambulatory health-care settings. METHODS: A one-year prospective study was conducted on febrile children who were consecutively seen and managed at two walk-in primary-care clinics in Sulaimania Children's Hospital, Riyadh. Data collection and analysis were structured around the principal study objectives. RESULTS: Among the 16,173 children seen, 4086 (25.3%) were identified as having a fever and evaluated to determine the aetiology of their febrile illness. Boys outnumbered girls and a significant increase in the frequency of febrile illnesses was noted in children 4 to 24 months of age. Upper respiratory tract infections were the commonest cause of fever (75%) and most of these infections were viral rhinopharyngitis. Viral gastroenteritis and pneumonia were prominent diagnoses, each accounting for 5% of febrile illnesses. Notably of low frequency were serious bacterial infections, such as meningitis (0.5%), cellulitis and bone or joint infection (1.8%) and urinary tract infection (0.7%). Only 9% of the febrile children required hospitalization. The ambulatory management of the other febrile children included the prescription of oral antibiotics to 64% of them. CONCLUSION: The proper clinical assessment of these febrile children and the prudent use of laboratory tests and antimicrobials remain the most important management strategies in primary health-care practice.

Muscular dystrophy associated with beta-Dystroglycan deficiency.

beta-Dystroglycan, a 43-kd transmembrane dystrophin-associated glycoprotein, plays an important role in linking dystrophin to the laminin-binding alpha-dystroglycan. alpha-/beta-Dystroglycan is encoded by a single gene on chromosome 3p21 and ubiquitously expressed in muscle and nonmuscle tissues. No known human diseases have been mapped to this locus. Here, we describe the selective deficiency of beta-dystroglycan in a 4-year-old Saudi boy with muscular dystrophy. The patient had a borderline elevation of serum creatine kinase level and early-onset proximal symmetrical muscle weakness and wasting without calf hypertrophy. The milder phenotype may suggest a secondary deficiency of beta-dystroglycan; however, the unique immunofluorescence labeling suggests that the patient may present a novel form of muscular dystrophy.

Childhood bacterial diarrhoea in a regional hospital in Saudi Arabia: clinico-aetiological features.

Over a one-year period, 210 paediatric patients, who were admitted with acute diarrhoea to a regional hospital in the south-western region of Saudi Arabia, were retrospectively reviewed for bacterial enteropathogens. Bacterial pathogens were isolated from 66 (31.4%) patients, with Shigella being the most common (17.1%), followed by Salmonella (10.5%), and enteropathogenic Escherichia coli (EPEC) (3.8%). Major clinical findings associated with bacterial diarrhoea are similar to those reported before. Our results suggest that bacterial pathogens constitute a major cause of acute childhood diarrhoea in hospitalized children in Al-Baha province. Further prospective community based studies are needed to identify the pattern and risk factors of acute childhood diarrhoea in the region.