Late respiratory failure in Jeune syndrome

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Fatal cerebral edema associated with serine deficiency in CSF

Two young girls without a notable medical history except for asthma presented with an acute toxic encephalopathy with very low serine concentrations both in plasma and cerebrospinal fluid (CSF) comparable to patients with 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency. Clinical symptoms and enzyme measurement (in one patient) excluded 3-PGDH deficiency. Deficiencies in other serine biosynthesis enzymes were highly unlikely on clinical grounds. On basis of the fasting state, ketone bodies and lactate in plasma, urine and CSF, we speculate that reduced serine levels were due to its use as gluconeogenic substrate, conversion to pyruvate by brain serine racemase or decreased L-serine production because of a lack of glucose. These are the first strikingly similar cases of patients with a clear secondary serine deficiency associated with a toxic encephalopathy

High-resolution laser system for the S3-Low Energy Branch

In this paper we present the first high-resolution laser spectroscopy results obtained at the GISELE laser laboratory of the GANIL-SPIRAL2 facility, in preparation for the first experiments with the S$^3$-Low Energy Branch. Studies of neutron-deficient radioactive isotopes of erbium and tin represent the first physics cases to be studied at S$^3$. The measured isotope-shift and hyperfine structure data are presented for stable isotopes of these elements. The erbium isotopes were studied using the $4f^{12}6s^2$ $^3H_6 \rightarrow 4f^{12}(^3 H)6s6p$ $J = 5$ atomic transition (415 nm) and the tin isotopes were studied by the $5s^25p^2 (^3P_0) \rightarrow 5s^25p6s (^3P_1)$ atomic transition (286.4 nm), and are used as a benchmark of the laser setup. Additionally, the tin isotopes were studied by the $5s^25p6s (^3P_1) \rightarrow 5s^25p6p (^3P_2)$ atomic transition (811.6 nm), for which new isotope-shift data was obtained and the corresponding field-shift $F_{812}$ and mass-shift $M_{812}$ factors are presented