[Alcardi's syndrome in a monozygotic twin girl]

Aicardi's syndrome is a rare genetic disorder characterized by heterogeneity of clinical findings and prognosis. The characteristic features include infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This syndrome is seem almost exclusively in female and it's often sporadic. The authors report a case of a premature female twins with typical Aicardi syndrome and her sister sibling was unaffected. At 4 months of age, the patient developed flexion in spasms and constipation. At that time she had microcephaly, abdominal ballonnement and generalized hypotonia. The electro- encephalography showed a characteristic hypsarrhythmia. The cranial ultrasonography and computed tomographic scan cerebral demonstrated agenesis of the corpus callous. Chest radiograph revealed multiple dorsal hemi vertebrae and scoliosis. The ophthalmologic examination showed chorioretinal lacunae. The karyotype was 46, XX. The patient also had peripheric hypothyroidism. The outcome under Vigabatrin and L-Thyroxin was characterized by a psychomotor retardation, a severe epilepsy, gastroesophageal reflux and recurrent pneumonia which caused the death at 2 years of age

Atypical Aicardi's syndrome on two sisters not twins

Aicardi's syndrome is a rare genetic disorder characterized by heterogeneity of clinical findings and prognosis. The characteristic features include infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This syndrome is seen almost exclusively in female and is often sporadic. However, some familial cases were reported in the literature. The prognosis is unpredictable. It is grave in most of cases with severe psychomotor retardation. The authors report two sisters not twins, from a consanguineous familily with atypical Aicardi syndrome diagnosed at 2 months of age. Clinical feautures were infantile spasms, partial agenesis of the corpus callosum and atypical ophthalmologic abnormalities. Evolution was marked by severe psychomotor retardation, scoliosis and severe recurrent pneumonia entailing the death of one of the patients at 3 years of age

Partial laser arytenoidectomy in the management of bilateral vocal fold immobility. A modification nased on functional anatomical study of the cricoarytenoid joint

To establish the anatomical relationships of the arytenoid and cricoid cartilages and apply these findings to design an arytenoidectomy based on a sound anatomical basis. We prospectively conducted this study between 1996 and 2002 at the Main University Hospital of Alexandria, Egypt. In 50 patients, we endoscopically measured the length of the vocal process and the distance between the vocal process tip and upper border of the cricoid cartilage. We sagittally and axially sectioned 25 total laryngectomy specimens to verify the position of the arytenoids and their relation to the cricoid. The anatomical findings led to the design of a laser partial arytenoidectomy and cordotomy [L-PAC], which we used in 45 patients with bilateral cord paralysis in adduction. The anatomical findings showed that the cricoarytenoid joint did not contribute to the airway in any of the measured specimens. Using L-PAC, we decannulated 100% of the patients and no patient needed postoperative tracheostomy at any time. Only 3 patients experienced minimal postoperative aspiration to liquids [6.7%]. We achieved reasonable phonation as assessed by a speech analysis battery. However, 3 patients [6.7%] needed contralateral L-PAC. The present extra-articular technique, L-PAC, showed its superiority to previous endoscopic or transcervical complete arytenoidectomy techniques in providing an effective balance between the protective, respiratory, and to a lesser extent the phonatory functions

use of mitomycin-C for respiratory papillomas: clinical, histologic and biochemical correlation

To assess the clinical effects of mitomycin-C [MMC] on human papilloma virus [HPV]-infected tissues of the airway. We included 10 patients with previous histologic diagnosis of recurrent respiratory papillomas [RRP] in this prospective study, conducted at the Department of Otolaryngology-Head and Neck Surgery, University of Alexandria, Egypt, between January 2000 and December 2002. Under general anesthesia, each patient underwent laser excision of all visible papillomas, followed by topical application of 1 cc of 0.5 mg/ml MMC. The procedure was repeated weekly until no visible papillomas could be microscopically detected. We histopathologically studied the obtained specimens and tested for the presence of HPV DNA using polymerase chain reaction [PCR] technique. We collected blood samples from all patients and from another 10 healthy volunteers for determination of serum interleukin-2 [IL-2] level using enzyme-linked immunosorbent assay technique. We achieved clinical remission in 8 of the patients [80%], a fact that was confirmed histopathologically and by PCR data. The mean serum IL-2 levels +/- SD was significantly lower in papilloma patients [83.6 +/- 28.83 pg/ml] than in control subjects [196.3 +/- 42.46 pg/ml] [p<0.01]. Among patients with RRP, serum IL-2 levels +/- SD was lower in initial samples [83.6 +/- 28.83] than follow-up [95.7 +/- 27.98 and 112.3 +/- 33.8 and 129.4 +/- 34.04] and remission samples [154 +/- 37.84 pg/ml]. Our result suggests that topical application of MMC may act adjunctively to laser surgery for RRP

Evaluation of the O-cresolphthalein complexone procedure in comparison with the atomic absorption spectrophotometry for serum calcium determination

The automated 0.cresophthalein complexone dye method was recently introduced in the calcium chemistry module of the ASTRA-8 system present in Ain Shams University Hospital. This method was evaluated in comparison with the atomic absorption spectrophotometer reference method. Quality control material [normal and pathological levels] and 40 patient samples were used in the evaluation study. The coefficients of variation for the within batch precision were 1.5% and 1.1%, while those for the day to day precision were 3.2% and 2.3% for the normal and pathological levels respectively. Accuracy study showed minimal bias [0.12 mg/dl] and no statistically significant difference was observed between the two methods. Recovery was excellent. Linearity was 4.5 - 13 mg/ dl. No interference was detected by magnesium, while haemoglobin at a level of 1 g/dl showed a decrease in calcium concentration with an average of 0.6 mg/dl. The throughput was 70 samples/ hour, Very small sample size [12 micro l] or reagent [150 micro l] was required. There was good correlation between the ASTRA calcium method and atomic absorption spectrophotometry [Y = 1.97 + 0.8 X r=0.92]. The goals of analytical reliability, simplicity and convenience were nearly achieved by the -ASTRA-8 calcium method

Les anomalies des arcs aortiques - a propos d'un cas de double arc

The aortic arches anomalies are rare. The authors report one case of double aortic arch revealed by a stridor. The diagnosis was dealt by simple means: thorax radiography and esogastroduodenal transit. The surgical treatment succeeded. From this observation the authors try to do a general survey of the anomalies of aortic arches development

Evaluation of Egyptian above knee prosthesis made in Agouza workshop

Studies were carried out on 474 patients who were suffering from above knee amputations. They were classified according to their sources of references, ages, and distributions, types of prosthesis used and durability of their limbs. It was found that military service patients, and national health insurance patients constituted most of referred patients, other patients came from veterans and private sources. More than half of these patients were young aged. The prosthesis-sused were partially quadrilateral and partially total contact sockets, The production of plastic sockets was three times than that of wooden sockets, and also proved to be more durable. Most of the knees used were provided with constant friction single axis which, proved to be satisfactory. Our limbs were also provided with SACH foot, which proved to be significantly more durable than the other types previously used

Evaluation of Egyptian below knee prostheses made in Agouza workshop

A study was made during 1978 on 813 patients complaining from below knee asputation and attending to our center for fitting with artificial limb. The study showed that most of our patient were referred from military hospitals, health insurance hospitals and less than 10% from private. The most common age incidence of ampulations was from 20 to 30 years in military and civilian patients, the common cause of ampulation was due to trauma. Our production from patellar tendon-bearing prosthesis was four times than that of conventional type. Our prosthesis were significantly durable and fitted well to our patients. Most of the patients used their artificial limbs efficiently specially those who were fitted with P.T.B. prosthesis